Co-occurring diagnoses among FMR1 premutation allele carriers

Hunter JE, Rohr JK, Sherman SL. Co‐occurring diagnoses among FMR1 premutation allele carriers. Following the discovery of two disorders associated with premutation alleles of the fragile X mental retardation gene (FMR1), primary ovarian insufficiency [fragile X‐associated primary ovarian insufficien...

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Published inClinical genetics Vol. 77; no. 4; pp. 374 - 381
Main Authors Hunter, JE, Rohr, JK, Sherman, SL
Format Journal Article
LanguageEnglish
Published Oxford, UK Blackwell Publishing Ltd 01.04.2010
Wiley-Blackwell
Subjects
Adolescent
Adult
Alleles
Biological and medical sciences
CGG repeat
Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...)
Comorbidity
Demography
Female
FMR1
Fragile X Mental Retardation Protein - genetics
fragile X syndrome
Fundamental and applied biological sciences. Psychology
FXPOI
FXTAS
General aspects. Genetic counseling
Genetics
Genetics of eukaryotes. Biological and molecular evolution
Heterozygote
Humans
Male
Medical diagnosis
Medical disorders
Medical genetics
Medical sciences
Middle Aged
Models, Genetic
Molecular and cellular biology
Mutation
Mutation - genetics
Ovarian Diseases - epidemiology
Ovarian Diseases - genetics
premutation
Womens health
Young Adult
Human
Chromosome fragility
CGG repeat
Repeated sequence
FMR1
Genetic disease
Allele
Genetic counseling
premutation
FXTAS
Genetics
Diagnosis
Carrier
Fragile X syndrome
FXPOI
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Abstract Hunter JE, Rohr JK, Sherman SL. Co‐occurring diagnoses among FMR1 premutation allele carriers. Following the discovery of two disorders associated with premutation alleles of the fragile X mental retardation gene (FMR1), primary ovarian insufficiency [fragile X‐associated primary ovarian insufficiency (FXPOI)] and a tremor/ataxia syndrome [fragile X‐associated tremor/ataxia disorder (FXTAS)], numerous studies have examined other potential co‐morbid conditions, including neuropsychological deficits. Here, the frequency of self‐reported diagnoses obtained through medical history interviews from FMR1 premutation carriers and non‐carriers aged 18–50 were analyzed. Study subjects included 537 women, 334 of whom carry the premutation and 151 men, 37 of whom carry the premutation. Men with the premutation did not report any medical conditions at higher rates compared with non‐carriers, controlling for age, ethnicity/race, and household income. Women with the premutation reported mental health disorders [i.e. attention deficit hyperactivity disorder (ADHD), anxiety, depression] significantly more often than non‐carriers. However, after adjusting for covariates, these increased rates were not statistically significant. Additional follow‐up analyses examined the consequence of ovarian dysfunction as a cause of co‐occurring conditions. Women with an indication of ovarian insufficiency (i.e. irregular cycles) reported higher rates of thyroid problems and depression/anxiety. Because only women, not men, reported these conditions more often, the relationship between FXPOI and hormone irregularities in women should be explored for a potential link with the increase in the reported medical conditions.
AbstractList Following the discovery of two disorders associated with premutation alleles of the fragile X mental retardation gene ( FMR1 ), primary ovarian insufficiency [fragile X-associated primary ovarian insufficiency (FXPOI)] and a tremor/ataxia syndrome [fragile X-associated tremor/ataxia disorder (FXTAS)], numerous studies have examined other potential co-morbid conditions, including neuropsychological deficits. Here, the frequency of self-reported diagnoses obtained through medical history interviews from FMR1 premutation carriers and non-carriers aged 18-50 were analyzed. Study subjects included 537 women, 334 of whom carry the premutation and 151 men, 37 of whom carry the premutation. Men with the premutation did not report any medical conditions at higher rates compared with non-carriers, controlling for age, ethnicity/race, and household income. Women with the premutation reported mental health disorders [i.e. attention deficit hyperactivity disorder (ADHD), anxiety, depression] significantly more often than non-carriers. However, after adjusting for covariates, these increased rates were not statistically significant. Additional follow-up analyses examined the consequence of ovarian dysfunction as a cause of co-occurring conditions. Women with an indication of ovarian insufficiency (i.e. irregular cycles) reported higher rates of thyroid problems and depression/anxiety. Because only women, not men, reported these conditions more often, the relationship between FXPOI and hormone irregularities in women should be explored for a potential link with the increase in the reported medical conditions. [PUBLICATION ABSTRACT]
Hunter JE, Rohr JK, Sherman SL. Co‐occurring diagnoses among FMR1 premutation allele carriers. Following the discovery of two disorders associated with premutation alleles of the fragile X mental retardation gene ( FMR1 ), primary ovarian insufficiency [fragile X‐associated primary ovarian insufficiency (FXPOI)] and a tremor/ataxia syndrome [fragile X‐associated tremor/ataxia disorder (FXTAS)], numerous studies have examined other potential co‐morbid conditions, including neuropsychological deficits. Here, the frequency of self‐reported diagnoses obtained through medical history interviews from FMR1 premutation carriers and non‐carriers aged 18–50 were analyzed. Study subjects included 537 women, 334 of whom carry the premutation and 151 men, 37 of whom carry the premutation. Men with the premutation did not report any medical conditions at higher rates compared with non‐carriers, controlling for age, ethnicity/race, and household income. Women with the premutation reported mental health disorders [i.e. attention deficit hyperactivity disorder (ADHD), anxiety, depression] significantly more often than non‐carriers. However, after adjusting for covariates, these increased rates were not statistically significant. Additional follow‐up analyses examined the consequence of ovarian dysfunction as a cause of co‐occurring conditions. Women with an indication of ovarian insufficiency (i.e. irregular cycles) reported higher rates of thyroid problems and depression/anxiety. Because only women, not men, reported these conditions more often, the relationship between FXPOI and hormone irregularities in women should be explored for a potential link with the increase in the reported medical conditions.
Following the discovery of two disorders associated with premutation alleles of the fragile X mental retardation gene (FMR1), primary ovarian insufficiency [fragile X-associated primary ovarian insufficiency (FXPOI)] and a tremor/ataxia syndrome [fragile X-associated tremor/ataxia disorder (FXTAS)], numerous studies have examined other potential co-morbid conditions, including neuropsychological deficits. Here, the frequency of self-reported diagnoses obtained through medical history interviews from FMR1 premutation carriers and non-carriers aged 18-50 were analyzed. Study subjects included 537 women, 334 of whom carry the premutation and 151 men, 37 of whom carry the premutation. Men with the premutation did not report any medical conditions at higher rates compared with non-carriers, controlling for age, ethnicity/race, and household income. Women with the premutation reported mental health disorders [i.e. attention deficit hyperactivity disorder (ADHD), anxiety, depression] significantly more often than non-carriers. However, after adjusting for covariates, these increased rates were not statistically significant. Additional follow-up analyses examined the consequence of ovarian dysfunction as a cause of co-occurring conditions. Women with an indication of ovarian insufficiency (i.e. irregular cycles) reported higher rates of thyroid problems and depression/anxiety. Because only women, not men, reported these conditions more often, the relationship between FXPOI and hormone irregularities in women should be explored for a potential link with the increase in the reported medical conditions.Following the discovery of two disorders associated with premutation alleles of the fragile X mental retardation gene (FMR1), primary ovarian insufficiency [fragile X-associated primary ovarian insufficiency (FXPOI)] and a tremor/ataxia syndrome [fragile X-associated tremor/ataxia disorder (FXTAS)], numerous studies have examined other potential co-morbid conditions, including neuropsychological deficits. Here, the frequency of self-reported diagnoses obtained through medical history interviews from FMR1 premutation carriers and non-carriers aged 18-50 were analyzed. Study subjects included 537 women, 334 of whom carry the premutation and 151 men, 37 of whom carry the premutation. Men with the premutation did not report any medical conditions at higher rates compared with non-carriers, controlling for age, ethnicity/race, and household income. Women with the premutation reported mental health disorders [i.e. attention deficit hyperactivity disorder (ADHD), anxiety, depression] significantly more often than non-carriers. However, after adjusting for covariates, these increased rates were not statistically significant. Additional follow-up analyses examined the consequence of ovarian dysfunction as a cause of co-occurring conditions. Women with an indication of ovarian insufficiency (i.e. irregular cycles) reported higher rates of thyroid problems and depression/anxiety. Because only women, not men, reported these conditions more often, the relationship between FXPOI and hormone irregularities in women should be explored for a potential link with the increase in the reported medical conditions.
Hunter JE, Rohr JK, Sherman SL. Co-occurring diagnoses among FMR1 premutation allele carriers.Following the discovery of two disorders associated with premutation alleles of the fragile X mental retardation gene (FMR1), primary ovarian insufficiency [fragile X-associated primary ovarian insufficiency (FXPOI)] and a tremor/ataxia syndrome [fragile X-associated tremor/ataxia disorder (FXTAS)], numerous studies have examined other potential co-morbid conditions, including neuropsychological deficits. Here, the frequency of self-reported diagnoses obtained through medical history interviews from FMR1 premutation carriers and non-carriers aged 18-50 were analyzed. Study subjects included 537 women, 334 of whom carry the premutation and 151 men, 37 of whom carry the premutation. Men with the premutation did not report any medical conditions at higher rates compared with non-carriers, controlling for age, ethnicity/race, and household income. Women with the premutation reported mental health disorders [i.e. attention deficit hyperactivity disorder (ADHD), anxiety, depression] significantly more often than non-carriers. However, after adjusting for covariates, these increased rates were not statistically significant. Additional follow-up analyses examined the consequence of ovarian dysfunction as a cause of co-occurring conditions. Women with an indication of ovarian insufficiency (i.e. irregular cycles) reported higher rates of thyroid problems and depression/anxiety. Because only women, not men, reported these conditions more often, the relationship between FXPOI and hormone irregularities in women should be explored for a potential link with the increase in the reported medical conditions.
Following the discovery of two disorders associated with premutation alleles of the fragile X mental retardation gene ( FMR1 ), primary ovarian insufficiency [fragile X-associated primary ovarian insufficiency (FXPOI)] and a tremor/ataxia syndrome [fragile X-associated tremor/ataxia disorder (FXTAS)], numerous studies have examined other potential co-morbid conditions, including neuropsychological deficits. Here, the frequency of self-reported diagnoses obtained through medical history interviews from FMR1 premutation carriers and non-carriers aged 18–50 were analyzed. Study subjects included 537 women, 334 of whom carry the premutation and 151 men, 37 of whom carry the premutation. Men with the premutation did not report any medical conditions at higher rates compared with non-carriers, controlling for age, ethnicity/race, and household income. Women with the premutation reported mental health disorders [i.e. attention deficit hyperactivity disorder (ADHD), anxiety, depression] significantly more often than non-carriers. However, after adjusting for covariates, these increased rates were not statistically significant. Additional follow-up analyses examined the consequence of ovarian dysfunction as a cause of co-occurring conditions. Women with an indication of ovarian insufficiency (i.e. irregular cycles) reported higher rates of thyroid problems and depression/anxiety. Because only women, not men, reported these conditions more often, the relationship between FXPOI and hormone irregularities in women should be explored for a potential link with the increase in the reported medical conditions.
Following the discovery of two disorders associated with premutation alleles of the fragile X mental retardation gene (FMR1), primary ovarian insufficiency [fragile X-associated primary ovarian insufficiency (FXPOI)] and a tremor/ataxia syndrome [fragile X-associated tremor/ataxia disorder (FXTAS)], numerous studies have examined other potential co-morbid conditions, including neuropsychological deficits. Here, the frequency of self-reported diagnoses obtained through medical history interviews from FMR1 premutation carriers and non-carriers aged 18-50 were analyzed. Study subjects included 537 women, 334 of whom carry the premutation and 151 men, 37 of whom carry the premutation. Men with the premutation did not report any medical conditions at higher rates compared with non-carriers, controlling for age, ethnicity/race, and household income. Women with the premutation reported mental health disorders [i.e. attention deficit hyperactivity disorder (ADHD), anxiety, depression] significantly more often than non-carriers. However, after adjusting for covariates, these increased rates were not statistically significant. Additional follow-up analyses examined the consequence of ovarian dysfunction as a cause of co-occurring conditions. Women with an indication of ovarian insufficiency (i.e. irregular cycles) reported higher rates of thyroid problems and depression/anxiety. Because only women, not men, reported these conditions more often, the relationship between FXPOI and hormone irregularities in women should be explored for a potential link with the increase in the reported medical conditions.
Hunter JE, Rohr JK, Sherman SL. Co‐occurring diagnoses among FMR1 premutation allele carriers. Following the discovery of two disorders associated with premutation alleles of the fragile X mental retardation gene (FMR1), primary ovarian insufficiency [fragile X‐associated primary ovarian insufficiency (FXPOI)] and a tremor/ataxia syndrome [fragile X‐associated tremor/ataxia disorder (FXTAS)], numerous studies have examined other potential co‐morbid conditions, including neuropsychological deficits. Here, the frequency of self‐reported diagnoses obtained through medical history interviews from FMR1 premutation carriers and non‐carriers aged 18–50 were analyzed. Study subjects included 537 women, 334 of whom carry the premutation and 151 men, 37 of whom carry the premutation. Men with the premutation did not report any medical conditions at higher rates compared with non‐carriers, controlling for age, ethnicity/race, and household income. Women with the premutation reported mental health disorders [i.e. attention deficit hyperactivity disorder (ADHD), anxiety, depression] significantly more often than non‐carriers. However, after adjusting for covariates, these increased rates were not statistically significant. Additional follow‐up analyses examined the consequence of ovarian dysfunction as a cause of co‐occurring conditions. Women with an indication of ovarian insufficiency (i.e. irregular cycles) reported higher rates of thyroid problems and depression/anxiety. Because only women, not men, reported these conditions more often, the relationship between FXPOI and hormone irregularities in women should be explored for a potential link with the increase in the reported medical conditions.
Author Sherman, SL
Hunter, JE
Rohr, JK
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Cites_doi 10.1038/ejhg.2009.51
10.1212/WNL.57.1.127
10.1001/jama.1993.03510130075034
10.1002/ajmg.a.10862
10.1038/ng0793-244
10.1086/374321
10.1017/S1355838202020642
10.1002/(SICI)1096-8628(19960809)64:2<428::AID-AJMG39>3.0.CO;2-F
10.1016/0092-8674(91)90397-H
10.1159/000072846
10.1086/386296
10.1007/s10519-008-9214-3
10.1111/j.1365-2265.2007.03073.x
10.1097/GIM.0b013e31818de6ee
10.1196/annals.1429.040
10.1093/hmg/10.14.1449
10.1186/1471-244X-4-25
10.1002/ajmg.b.30685
10.1086/302720
10.1261/rna.280807
10.1002/ajmg.a.32060
10.1016/S0015-0282(01)02909-0
10.1007/s10519-005-2792-4
10.1055/s-2004-825925
10.1016/j.ajhg.2008.10.021
10.1002/(SICI)1096-8628(20000313)91:2<144::AID-AJMG14>3.0.CO;2-V
10.1089/105072504323024543
10.1017/S1355617705050642
10.1016/0092-8674(91)90283-5
10.1002/1096-8628(200023)97:3<189::AID-AJMG1036>3.0.CO;2-J
10.1126/science.252.5009.1179
10.2307/2531248
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Issue 4
Keywords Human
Chromosome fragility
CGG repeat
Repeated sequence
FMR1
Genetic disease
Allele
Genetic counseling
premutation
FXTAS
Genetics
Diagnosis
Carrier
Fragile X syndrome
FXPOI
Language English
License http://onlinelibrary.wiley.com/termsAndConditions#vor
CC BY 4.0
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PublicationDate April 2010
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PublicationTitle Clinical genetics
PublicationTitleAlternate Clin Genet
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Publisher Blackwell Publishing Ltd
Wiley-Blackwell
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References Soules MR, Sherman S, Parrott E et al. Executive summary: Stages of Reproductive Aging Workshop (STRAW). Fertil Steril 2001: 76: 874-878.
Yu S, Pritchard M, Kremer E et al. Fragile X genotype characterized by an unstable region of DNA. Science 1991: 252: 1179-1181.
Hagerman PJ, Hagerman RJ. The fragile-X premutation: a maturing perspective. Am J Hum Genet 2004: 74: 805-816.
Allen EG, Sherman S, Abramowitz A et al. Examination of the effect of the polymorphic CGG repeat in the FMR1 gene on cognitive performance. Behav Genet 2005: 35: 435-445.
Kogan CS, Turk J, Hagerman RJ et al. Impact of the Fragile X mental retardation 1 (FMR1) gene premutation on neuropsychiatric functioning in adult males without fragile X-associated Tremor/Ataxia syndrome: a controlled study. Am J Med Genet B Neuropsychiatr Genet 2008: 147B: 859-872.
Larisch R, Kley K, Nikolaus S et al. Depression and anxiety in different thyroid function states. Horm Metab Res 2004: 36: 650-653.
Tassone F, Hagerman PJ. Expression of the FMR1 gene. Cytogenet Genome Res 2003: 100: 124-128.
Tassone F, Hagerman RJ, Taylor AK et al. Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Am J Hum Genet 2000: 66: 6-15.
Ashley CT, Sutcliffe JS, Kunst CB et al. Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG-repeat. Nat Genet 1993: 4: 244-251.
Kenneson A, Zhang F, Hagedorn CH et al. Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum Mol Genet 2001: 10: 1449-1454.
Primerano B, Tassone F, Hagerman RJ et al. Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations. RNA 2002: 8: 1482-1488.
Jacquemont S, Hagerman RJ, Leehey M et al. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet 2003: 72: 869-878.
Tassone F, Hagerman RJ, Taylor AK et al. Clinical involvement and protein expression in individuals with the FMR1 premutation. Am J Med Genet 2000: 91: 144-152.
Coffey SM, Cook K, Tartaglia N et al. Expanded clinical phenotype of women with the FMR1 premutation. Am J Med Genet A 2008: 146A: 1009-1016.
Verkerk AJ, Pieretti M, Sutcliffe JS et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991: 65: 905-914.
Redmond GP. Thyroid dysfunction and women's reproductive health. Thyroid 2004: 14 (Suppl. 1): S5-15.
Brown WT, Houck GE Jr, Jeziorowska A et al. Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test. JAMA 1993: 270: 1569-1575.
Meadows KL, Pettay D, Newman J et al. Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population. Am J Med Genet 1996: 64: 428-433.
Hagerman RJ, Leehey M, Heinrichs W et al. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 2001: 57: 127-130.
Tassone F, Beilina A, Carosi C et al. Elevated FMR1 mRNA in premutation carriers is due to increased transcription. RNA 2007: 13: 555-562.
Carta MG, Loviselli A, Hardoy MC et al. The link between thyroid autoimmunity (antithyroid peroxidase autoantibodies) with anxiety and mood disorders in the community: a field of interest for public health in the future. BMC Psychiatry 2004: 4: 25.
Zeger SL, Liang KY. Longitudinal data analysis for discrete and continuous outcomes. Biometrics 1986: 42: 121-130.
Hundscheid RD, Smits AP, Thomas CM et al. Female carriers of fragile X premutations have no increased risk for additional diseases other than premature ovarian failure. Am J Med Genet A 2003: 117: 6-9.
Fu YH, Kuhl DP, Pizzuti A et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991: 67: 1047-1058.
Hunter JE, Abramowitz A, Rusin M et al. Is there evidence for neuropsychological and neurobehavioral phenotypes among adults without FXTAS who carry the FMR1 premutation? A review of current literature. Genet Med 2009: 11: 79-89.
Hunter JE, Allen EG, Abramowitz A et al. No evidence for a difference in neuropsychological profile among carriers and noncarriers of the FMR1 premutation in adults under the age of 50. Am J Hum Genet 2008: 83: 692-702.
Constant EL, Adam S, Seron X et al. Anxiety and depression, attention, and executive functions in hypothyroidism. J Int Neuropsychol Soc 2005: 11: 535-544.
Popat VB, Prodanov T, Calis KA et al. The menstrual cycle: a biological marker of general health in adolescents. Ann N Y Acad Sci 2008: 1135: 43-51.
Rodriguez-Revenga L, Madrigal I, Pagonabarraga J et al. Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families. Eur J Hum Genet 2009: 10: 1359-1362.
Sherman SL. Premature ovarian failure in the fragile X syndrome. Am J Med Genet 2000: 97: 189-194.
Welt CK. Primary ovarian insufficiency: a more accurate term for premature ovarian failure. Clin Endocrinol (Oxf) 2008: 68: 499-509.
Hunter JE, Allen EG, Abramowitz A et al. Investigation of phenotypes associated with mood and anxiety among male and female fragile x premutation carriers. Behav Genet 2008: 38: 493-502.
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17283214 - RNA. 2007 Apr;13(4):555-62
14526172 - Cytogenet Genome Res. 2003;100(1-4):124-8
1710175 - Cell. 1991 May 31;65(5):905-14
15486818 - Horm Metab Res. 2004 Sep;36(9):650-3
19265746 - Genet Med. 2009 Feb;11(2):79-89
8371467 - JAMA. 1993 Oct 6;270(13):1569-75
11449487 - Am J Med Genet. 2000 Fall;97(3):189-94
15971024 - Behav Genet. 2005 Jul;35(4):435-45
11448936 - Hum Mol Genet. 2001 Jul 1;10(14):1449-54
1760838 - Cell. 1991 Dec 20;67(6):1047-58
18165971 - Am J Med Genet B Neuropsychiatr Genet. 2008 Sep 5;147B(6):859-72
12638084 - Am J Hum Genet. 2003 Apr;72(4):869-78
10631132 - Am J Hum Genet. 2000 Jan;66(1):6-15
16212680 - J Int Neuropsychol Soc. 2005 Sep;11(5):535-44
3719049 - Biometrics. 1986 Mar;42(1):121-30
18348275 - Am J Med Genet A. 2008 Apr 15;146A(8):1009-16
11445641 - Neurology. 2001 Jul 10;57(1):127-30
15142372 - Thyroid. 2004;14 Suppl 1:S5-15
12515381 - RNA. 2002 Dec;8(12):1482-8
8358432 - Nat Genet. 1993 Jul;4(3):244-51
18535897 - Behav Genet. 2008 Sep;38(5):493-502
19367323 - Eur J Hum Genet. 2009 Oct;17(10):1359-62
17970776 - Clin Endocrinol (Oxf). 2008 Apr;68(4):499-509
19026394 - Am J Hum Genet. 2008 Dec;83(6):692-702
8844098 - Am J Med Genet. 1996 Aug 9;64(2):428-33
12548733 - Am J Med Genet A. 2003 Feb 15;117A(1):6-9
18574207 - Ann N Y Acad Sci. 2008;1135:43-51
11704104 - Fertil Steril. 2001 Nov;76(5):874-8
15317653 - BMC Psychiatry. 2004;4:25
15052536 - Am J Hum Genet. 2004 May;74(5):805-16
2031189 - Science. 1991 May 24;252(5009):1179-81
10748416 - Am J Med Genet. 2000 Mar 13;91(2):144-52
References_xml – reference: Tassone F, Hagerman RJ, Taylor AK et al. Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Am J Hum Genet 2000: 66: 6-15.
– reference: Hagerman RJ, Leehey M, Heinrichs W et al. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 2001: 57: 127-130.
– reference: Tassone F, Beilina A, Carosi C et al. Elevated FMR1 mRNA in premutation carriers is due to increased transcription. RNA 2007: 13: 555-562.
– reference: Fu YH, Kuhl DP, Pizzuti A et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991: 67: 1047-1058.
– reference: Hunter JE, Allen EG, Abramowitz A et al. No evidence for a difference in neuropsychological profile among carriers and noncarriers of the FMR1 premutation in adults under the age of 50. Am J Hum Genet 2008: 83: 692-702.
– reference: Coffey SM, Cook K, Tartaglia N et al. Expanded clinical phenotype of women with the FMR1 premutation. Am J Med Genet A 2008: 146A: 1009-1016.
– reference: Yu S, Pritchard M, Kremer E et al. Fragile X genotype characterized by an unstable region of DNA. Science 1991: 252: 1179-1181.
– reference: Hunter JE, Allen EG, Abramowitz A et al. Investigation of phenotypes associated with mood and anxiety among male and female fragile x premutation carriers. Behav Genet 2008: 38: 493-502.
– reference: Hagerman PJ, Hagerman RJ. The fragile-X premutation: a maturing perspective. Am J Hum Genet 2004: 74: 805-816.
– reference: Soules MR, Sherman S, Parrott E et al. Executive summary: Stages of Reproductive Aging Workshop (STRAW). Fertil Steril 2001: 76: 874-878.
– reference: Brown WT, Houck GE Jr, Jeziorowska A et al. Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test. JAMA 1993: 270: 1569-1575.
– reference: Verkerk AJ, Pieretti M, Sutcliffe JS et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991: 65: 905-914.
– reference: Allen EG, Sherman S, Abramowitz A et al. Examination of the effect of the polymorphic CGG repeat in the FMR1 gene on cognitive performance. Behav Genet 2005: 35: 435-445.
– reference: Constant EL, Adam S, Seron X et al. Anxiety and depression, attention, and executive functions in hypothyroidism. J Int Neuropsychol Soc 2005: 11: 535-544.
– reference: Primerano B, Tassone F, Hagerman RJ et al. Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations. RNA 2002: 8: 1482-1488.
– reference: Carta MG, Loviselli A, Hardoy MC et al. The link between thyroid autoimmunity (antithyroid peroxidase autoantibodies) with anxiety and mood disorders in the community: a field of interest for public health in the future. BMC Psychiatry 2004: 4: 25.
– reference: Sherman SL. Premature ovarian failure in the fragile X syndrome. Am J Med Genet 2000: 97: 189-194.
– reference: Rodriguez-Revenga L, Madrigal I, Pagonabarraga J et al. Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families. Eur J Hum Genet 2009: 10: 1359-1362.
– reference: Ashley CT, Sutcliffe JS, Kunst CB et al. Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG-repeat. Nat Genet 1993: 4: 244-251.
– reference: Kenneson A, Zhang F, Hagedorn CH et al. Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum Mol Genet 2001: 10: 1449-1454.
– reference: Zeger SL, Liang KY. Longitudinal data analysis for discrete and continuous outcomes. Biometrics 1986: 42: 121-130.
– reference: Welt CK. Primary ovarian insufficiency: a more accurate term for premature ovarian failure. Clin Endocrinol (Oxf) 2008: 68: 499-509.
– reference: Jacquemont S, Hagerman RJ, Leehey M et al. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet 2003: 72: 869-878.
– reference: Kogan CS, Turk J, Hagerman RJ et al. Impact of the Fragile X mental retardation 1 (FMR1) gene premutation on neuropsychiatric functioning in adult males without fragile X-associated Tremor/Ataxia syndrome: a controlled study. Am J Med Genet B Neuropsychiatr Genet 2008: 147B: 859-872.
– reference: Hunter JE, Abramowitz A, Rusin M et al. Is there evidence for neuropsychological and neurobehavioral phenotypes among adults without FXTAS who carry the FMR1 premutation? A review of current literature. Genet Med 2009: 11: 79-89.
– reference: Meadows KL, Pettay D, Newman J et al. Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population. Am J Med Genet 1996: 64: 428-433.
– reference: Redmond GP. Thyroid dysfunction and women's reproductive health. Thyroid 2004: 14 (Suppl. 1): S5-15.
– reference: Popat VB, Prodanov T, Calis KA et al. The menstrual cycle: a biological marker of general health in adolescents. Ann N Y Acad Sci 2008: 1135: 43-51.
– reference: Tassone F, Hagerman RJ, Taylor AK et al. Clinical involvement and protein expression in individuals with the FMR1 premutation. Am J Med Genet 2000: 91: 144-152.
– reference: Hundscheid RD, Smits AP, Thomas CM et al. Female carriers of fragile X premutations have no increased risk for additional diseases other than premature ovarian failure. Am J Med Genet A 2003: 117: 6-9.
– reference: Larisch R, Kley K, Nikolaus S et al. Depression and anxiety in different thyroid function states. Horm Metab Res 2004: 36: 650-653.
– reference: Tassone F, Hagerman PJ. Expression of the FMR1 gene. Cytogenet Genome Res 2003: 100: 124-128.
– volume: 64
  start-page: 428
  year: 1996
  end-page: 433
  article-title: Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population
  publication-title: Am J Med Genet
– volume: 1135
  start-page: 43
  year: 2008
  end-page: 51
  article-title: The menstrual cycle: a biological marker of general health in adolescents
  publication-title: Ann N Y Acad Sci
– volume: 10
  start-page: 1449
  year: 2001
  end-page: 1454
  article-title: Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate‐length and premutation carriers
  publication-title: Hum Mol Genet
– volume: 91
  start-page: 144
  year: 2000
  end-page: 152
  article-title: Clinical involvement and protein expression in individuals with the FMR1 premutation
  publication-title: Am J Med Genet
– volume: 74
  start-page: 805
  year: 2004
  end-page: 816
  article-title: The fragile‐X premutation: a maturing perspective
  publication-title: Am J Hum Genet
– volume: 4
  start-page: 25
  year: 2004
  article-title: The link between thyroid autoimmunity (antithyroid peroxidase autoantibodies) with anxiety and mood disorders in the community: a field of interest for public health in the future
  publication-title: BMC Psychiatry
– volume: 65
  start-page: 905
  year: 1991
  end-page: 914
  article-title: Identification of a gene (FMR‐1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
  publication-title: Cell
– volume: 72
  start-page: 869
  year: 2003
  end-page: 878
  article-title: Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates
  publication-title: Am J Hum Genet
– volume: 36
  start-page: 650
  year: 2004
  end-page: 653
  article-title: Depression and anxiety in different thyroid function states
  publication-title: Horm Metab Res
– volume: 68
  start-page: 499
  year: 2008
  end-page: 509
  article-title: Primary ovarian insufficiency: a more accurate term for premature ovarian failure
  publication-title: Clin Endocrinol (Oxf)
– volume: 117
  start-page: 6
  year: 2003
  end-page: 9
  article-title: Female carriers of fragile X premutations have no increased risk for additional diseases other than premature ovarian failure
  publication-title: Am J Med Genet A
– volume: 4
  start-page: 244
  year: 1993
  end-page: 251
  article-title: Human and murine FMR‐1: alternative splicing and translational initiation downstream of the CGG‐repeat
  publication-title: Nat Genet
– volume: 11
  start-page: 535
  year: 2005
  end-page: 544
  article-title: Anxiety and depression, attention, and executive functions in hypothyroidism
  publication-title: J Int Neuropsychol Soc
– volume: 8
  start-page: 1482
  year: 2002
  end-page: 1488
  article-title: Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations
  publication-title: RNA
– volume: 57
  start-page: 127
  year: 2001
  end-page: 130
  article-title: Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
  publication-title: Neurology
– volume: 76
  start-page: 874
  year: 2001
  end-page: 878
  article-title: Executive summary: Stages of Reproductive Aging Workshop (STRAW)
  publication-title: Fertil Steril
– volume: 83
  start-page: 692
  year: 2008
  end-page: 702
  article-title: No evidence for a difference in neuropsychological profile among carriers and noncarriers of the FMR1 premutation in adults under the age of 50
  publication-title: Am J Hum Genet
– volume: 97
  start-page: 189
  year: 2000
  end-page: 194
  article-title: Premature ovarian failure in the fragile X syndrome
  publication-title: Am J Med Genet
– volume: 270
  start-page: 1569
  year: 1993
  end-page: 1575
  article-title: Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test
  publication-title: JAMA
– volume: 66
  start-page: 6
  year: 2000
  end-page: 15
  article-title: Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile‐X syndrome
  publication-title: Am J Hum Genet
– volume: 38
  start-page: 493
  year: 2008
  end-page: 502
  article-title: Investigation of phenotypes associated with mood and anxiety among male and female fragile x premutation carriers
  publication-title: Behav Genet
– volume: 100
  start-page: 124
  year: 2003
  end-page: 128
  article-title: Expression of the FMR1 gene
  publication-title: Cytogenet Genome Res
– volume: 11
  start-page: 79
  year: 2009
  end-page: 89
  article-title: Is there evidence for neuropsychological and neurobehavioral phenotypes among adults without FXTAS who carry the FMR1 premutation? A review of current literature
  publication-title: Genet Med
– volume: 252
  start-page: 1179
  year: 1991
  end-page: 1181
  article-title: Fragile X genotype characterized by an unstable region of DNA
  publication-title: Science
– volume: 146A
  start-page: 1009
  year: 2008
  end-page: 1016
  article-title: Expanded clinical phenotype of women with the FMR1 premutation
  publication-title: Am J Med Genet A
– volume: 10
  start-page: 1359
  year: 2009
  end-page: 1362
  article-title: Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families
  publication-title: Eur J Hum Genet
– volume: 42
  start-page: 121
  year: 1986
  end-page: 130
  article-title: Longitudinal data analysis for discrete and continuous outcomes
  publication-title: Biometrics
– volume: 67
  start-page: 1047
  year: 1991
  end-page: 1058
  article-title: Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox
  publication-title: Cell
– volume: 35
  start-page: 435
  year: 2005
  end-page: 445
  article-title: Examination of the effect of the polymorphic CGG repeat in the FMR1 gene on cognitive performance
  publication-title: Behav Genet
– volume: 13
  start-page: 555
  year: 2007
  end-page: 562
  article-title: Elevated FMR1 mRNA in premutation carriers is due to increased transcription
  publication-title: RNA
– volume: 147B
  start-page: 859
  year: 2008
  end-page: 872
  article-title: Impact of the Fragile X mental retardation 1 (FMR1) gene premutation on neuropsychiatric functioning in adult males without fragile X‐associated Tremor/Ataxia syndrome: a controlled study.
  publication-title: Am J Med Genet B Neuropsychiatr Genet
– volume: 14
  start-page: S5
  issue: (Suppl. 1)
  year: 2004
  end-page: 15
  article-title: Thyroid dysfunction and women's reproductive health
  publication-title: Thyroid
– ident: e_1_2_6_19_2
  doi: 10.1038/ejhg.2009.51
– ident: e_1_2_6_15_2
  doi: 10.1212/WNL.57.1.127
– ident: e_1_2_6_27_2
  doi: 10.1001/jama.1993.03510130075034
– ident: e_1_2_6_28_2
  doi: 10.1002/ajmg.a.10862
– ident: e_1_2_6_5_2
  doi: 10.1038/ng0793-244
– ident: e_1_2_6_14_2
  doi: 10.1086/374321
– volume: 8
  start-page: 1482
  year: 2002
  ident: e_1_2_6_6_2
  article-title: Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations
  publication-title: RNA
  doi: 10.1017/S1355838202020642
– ident: e_1_2_6_26_2
  doi: 10.1002/(SICI)1096-8628(19960809)64:2<428::AID-AJMG39>3.0.CO;2-F
– ident: e_1_2_6_2_2
  doi: 10.1016/0092-8674(91)90397-H
– ident: e_1_2_6_10_2
  doi: 10.1159/000072846
– ident: e_1_2_6_16_2
  doi: 10.1086/386296
– ident: e_1_2_6_20_2
  doi: 10.1007/s10519-008-9214-3
– ident: e_1_2_6_13_2
  doi: 10.1111/j.1365-2265.2007.03073.x
– ident: e_1_2_6_17_2
  doi: 10.1097/GIM.0b013e31818de6ee
– ident: e_1_2_6_24_2
  doi: 10.1196/annals.1429.040
– ident: e_1_2_6_9_2
  doi: 10.1093/hmg/10.14.1449
– ident: e_1_2_6_29_2
  doi: 10.1186/1471-244X-4-25
– ident: e_1_2_6_31_2
  doi: 10.1002/ajmg.b.30685
– ident: e_1_2_6_7_2
  doi: 10.1086/302720
– ident: e_1_2_6_11_2
  doi: 10.1261/rna.280807
– ident: e_1_2_6_18_2
  doi: 10.1002/ajmg.a.32060
– ident: e_1_2_6_23_2
  doi: 10.1016/S0015-0282(01)02909-0
– ident: e_1_2_6_22_2
  doi: 10.1007/s10519-005-2792-4
– ident: e_1_2_6_33_2
  doi: 10.1055/s-2004-825925
– ident: e_1_2_6_21_2
  doi: 10.1016/j.ajhg.2008.10.021
– ident: e_1_2_6_8_2
  doi: 10.1002/(SICI)1096-8628(20000313)91:2<144::AID-AJMG14>3.0.CO;2-V
– ident: e_1_2_6_30_2
  doi: 10.1089/105072504323024543
– ident: e_1_2_6_32_2
  doi: 10.1017/S1355617705050642
– ident: e_1_2_6_3_2
  doi: 10.1016/0092-8674(91)90283-5
– ident: e_1_2_6_12_2
  doi: 10.1002/1096-8628(200023)97:3<189::AID-AJMG1036>3.0.CO;2-J
– ident: e_1_2_6_4_2
  doi: 10.1126/science.252.5009.1179
– ident: e_1_2_6_25_2
  doi: 10.2307/2531248
– reference: 19026394 - Am J Hum Genet. 2008 Dec;83(6):692-702
– reference: 18535897 - Behav Genet. 2008 Sep;38(5):493-502
– reference: 17970776 - Clin Endocrinol (Oxf). 2008 Apr;68(4):499-509
– reference: 1760838 - Cell. 1991 Dec 20;67(6):1047-58
– reference: 11448936 - Hum Mol Genet. 2001 Jul 1;10(14):1449-54
– reference: 16212680 - J Int Neuropsychol Soc. 2005 Sep;11(5):535-44
– reference: 15052536 - Am J Hum Genet. 2004 May;74(5):805-16
– reference: 15486818 - Horm Metab Res. 2004 Sep;36(9):650-3
– reference: 12548733 - Am J Med Genet A. 2003 Feb 15;117A(1):6-9
– reference: 12638084 - Am J Hum Genet. 2003 Apr;72(4):869-78
– reference: 18165971 - Am J Med Genet B Neuropsychiatr Genet. 2008 Sep 5;147B(6):859-72
– reference: 15317653 - BMC Psychiatry. 2004;4:25
– reference: 1710175 - Cell. 1991 May 31;65(5):905-14
– reference: 18348275 - Am J Med Genet A. 2008 Apr 15;146A(8):1009-16
– reference: 11449487 - Am J Med Genet. 2000 Fall;97(3):189-94
– reference: 17283214 - RNA. 2007 Apr;13(4):555-62
– reference: 11704104 - Fertil Steril. 2001 Nov;76(5):874-8
– reference: 15971024 - Behav Genet. 2005 Jul;35(4):435-45
– reference: 11445641 - Neurology. 2001 Jul 10;57(1):127-30
– reference: 14526172 - Cytogenet Genome Res. 2003;100(1-4):124-8
– reference: 10631132 - Am J Hum Genet. 2000 Jan;66(1):6-15
– reference: 3719049 - Biometrics. 1986 Mar;42(1):121-30
– reference: 19367323 - Eur J Hum Genet. 2009 Oct;17(10):1359-62
– reference: 10748416 - Am J Med Genet. 2000 Mar 13;91(2):144-52
– reference: 8358432 - Nat Genet. 1993 Jul;4(3):244-51
– reference: 8844098 - Am J Med Genet. 1996 Aug 9;64(2):428-33
– reference: 8371467 - JAMA. 1993 Oct 6;270(13):1569-75
– reference: 15142372 - Thyroid. 2004;14 Suppl 1:S5-15
– reference: 18574207 - Ann N Y Acad Sci. 2008;1135:43-51
– reference: 2031189 - Science. 1991 May 24;252(5009):1179-81
– reference: 12515381 - RNA. 2002 Dec;8(12):1482-8
– reference: 19265746 - Genet Med. 2009 Feb;11(2):79-89
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Snippet Hunter JE, Rohr JK, Sherman SL. Co‐occurring diagnoses among FMR1 premutation allele carriers. Following the discovery of two disorders associated with...
Hunter JE, Rohr JK, Sherman SL. Co‐occurring diagnoses among FMR1 premutation allele carriers. Following the discovery of two disorders associated with...
Following the discovery of two disorders associated with premutation alleles of the fragile X mental retardation gene (FMR1), primary ovarian insufficiency...
Following the discovery of two disorders associated with premutation alleles of the fragile X mental retardation gene ( FMR1 ), primary ovarian insufficiency...
Hunter JE, Rohr JK, Sherman SL. Co-occurring diagnoses among FMR1 premutation allele carriers.Following the discovery of two disorders associated with...
Following the discovery of two disorders associated with premutation alleles of the fragile X mental retardation gene ( FMR1 ), primary ovarian insufficiency...
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SubjectTerms Adolescent
Adult
Alleles
Biological and medical sciences
CGG repeat
Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...)
Comorbidity
Demography
Female
FMR1
Fragile X Mental Retardation Protein - genetics
fragile X syndrome
Fundamental and applied biological sciences. Psychology
FXPOI
FXTAS
General aspects. Genetic counseling
Genetics
Genetics of eukaryotes. Biological and molecular evolution
Heterozygote
Humans
Male
Medical diagnosis
Medical disorders
Medical genetics
Medical sciences
Middle Aged
Models, Genetic
Molecular and cellular biology
Mutation
Mutation - genetics
Ovarian Diseases - epidemiology
Ovarian Diseases - genetics
premutation
Womens health
Young Adult
Title Co-occurring diagnoses among FMR1 premutation allele carriers
URI https://api.istex.fr/ark:/67375/WNG-QPG08M75-R/fulltext.pdf
https://onlinelibrary.wiley.com/doi/abs/10.1111%2Fj.1399-0004.2009.01317.x
https://www.ncbi.nlm.nih.gov/pubmed/20059484
https://www.proquest.com/docview/200752140
https://www.proquest.com/docview/733955406
https://www.proquest.com/docview/746069692
https://pubmed.ncbi.nlm.nih.gov/PMC3696492
Volume 77
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