10q26.1 Microdeletion: Redefining the critical regions for microcephaly and genital anomalies
Distal 10q deletion syndrome is a well‐characterized chromosomal disorder consisting of neurodevelopmental impairment, facial dysmorphism, cardiac malformations, genital and urinary tract defects, as well as digital anomalies. Patients with interstitial deletions involving band 10q26.1 present a phe...
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Published in | American journal of medical genetics. Part A Vol. 167A; no. 11; pp. 2707 - 2713 |
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Blackwell Publishing Ltd
01.11.2015
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Abstract | Distal 10q deletion syndrome is a well‐characterized chromosomal disorder consisting of neurodevelopmental impairment, facial dysmorphism, cardiac malformations, genital and urinary tract defects, as well as digital anomalies. Patients with interstitial deletions involving band 10q26.1 present a phenotype similar to the ones with the distal 10q deletion syndrome, which led to the definition of a causal 600 kb smallest region of overlap (SRO). In this report, we describe a male patient with an interstitial 4.5 Mb deletion involving exclusively the 10q26.1 segment. He had growth and psychomotor retardation, microcephaly, flat feet, micropenis, and cryptorchidism. The patient's deleted region does not overlap the 10q SRO. We reviewed the clinical phenotype of patients with similar deletions and suggest the presence of two new SROs, one associated with microcephaly, growth and psychomotor retardation, and the other associated to genital anomalies. Interestingly, we narrowed those regions to segments encompassing five and two genes, respectively. FGFR2, NSMCE4A, and ATE1 were suggested as candidates for facial dysmorphism, growth cessation, and heart defects, respectively. WDR11 was linked to idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Its haploinsufficiency could play a crucial role in the genital anomalies of these patients. © 2015 Wiley Periodicals, Inc. |
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AbstractList | Distal 10q deletion syndrome is a well-characterized chromosomal disorder consisting of neurodevelopmental impairment, facial dysmorphism, cardiac malformations, genital and urinary tract defects, as well as digital anomalies. Patients with interstitial deletions involving band 10q26.1 present a phenotype similar to the ones with the distal 10q deletion syndrome, which led to the definition of a causal 600kb smallest region of overlap (SRO). In this report, we describe a male patient with an interstitial 4.5Mb deletion involving exclusively the 10q26.1 segment. He had growth and psychomotor retardation, microcephaly, flat feet, micropenis, and cryptorchidism. The patient's deleted region does not overlap the 10q SRO. We reviewed the clinical phenotype of patients with similar deletions and suggest the presence of two new SROs, one associated with microcephaly, growth and psychomotor retardation, and the other associated to genital anomalies. Interestingly, we narrowed those regions to segments encompassing five and two genes, respectively. FGFR2, NSMCE4A, and ATE1 were suggested as candidates for facial dysmorphism, growth cessation, and heart defects, respectively. WDR11 was linked to idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Its haploinsufficiency could play a crucial role in the genital anomalies of these patients. © 2015 Wiley Periodicals, Inc. Distal 10q deletion syndrome is a well-characterized chromosomal disorder consisting of neurodevelopmental impairment, facial dysmorphism, cardiac malformations, genital and urinary tract defects, as well as digital anomalies. Patients with interstitial deletions involving band 10q26.1 present a phenotype similar to the ones with the distal 10q deletion syndrome, which led to the definition of a causal 600 kb smallest region of overlap (SRO). In this report, we describe a male patient with an interstitial 4.5 Mb deletion involving exclusively the 10q26.1 segment. He had growth and psychomotor retardation, microcephaly, flat feet, micropenis, and cryptorchidism. The patient's deleted region does not overlap the 10q SRO. We reviewed the clinical phenotype of patients with similar deletions and suggest the presence of two new SROs, one associated with microcephaly, growth and psychomotor retardation, and the other associated to genital anomalies. Interestingly, we narrowed those regions to segments encompassing five and two genes, respectively. FGFR2, NSMCE4A, and ATE1 were suggested as candidates for facial dysmorphism, growth cessation, and heart defects, respectively. WDR11 was linked to idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Its haploinsufficiency could play a crucial role in the genital anomalies of these patients. Distal 10q deletion syndrome is a well-characterized chromosomal disorder consisting of neurodevelopmental impairment, facial dysmorphism, cardiac malformations, genital and urinary tract defects, as well as digital anomalies. Patients with interstitial deletions involving band 10q26.1 present a phenotype similar to the ones with the distal 10q deletion syndrome, which led to the definition of a causal 600kb smallest region of overlap (SRO). In this report, we describe a male patient with an interstitial 4.5Mb deletion involving exclusively the 10q26.1 segment. He had growth and psychomotor retardation, microcephaly, flat feet, micropenis, and cryptorchidism. The patient's deleted region does not overlap the 10q SRO. We reviewed the clinical phenotype of patients with similar deletions and suggest the presence of two new SROs, one associated with microcephaly, growth and psychomotor retardation, and the other associated to genital anomalies. Interestingly, we narrowed those regions to segments encompassing five and two genes, respectively. FGFR2, NSMCE4A, and ATE1 were suggested as candidates for facial dysmorphism, growth cessation, and heart defects, respectively. WDR11 was linked to idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Its haploinsufficiency could play a crucial role in the genital anomalies of these patients. Distal 10q deletion syndrome is a well‐characterized chromosomal disorder consisting of neurodevelopmental impairment, facial dysmorphism, cardiac malformations, genital and urinary tract defects, as well as digital anomalies. Patients with interstitial deletions involving band 10q26.1 present a phenotype similar to the ones with the distal 10q deletion syndrome, which led to the definition of a causal 600 kb smallest region of overlap (SRO). In this report, we describe a male patient with an interstitial 4.5 Mb deletion involving exclusively the 10q26.1 segment. He had growth and psychomotor retardation, microcephaly, flat feet, micropenis, and cryptorchidism. The patient's deleted region does not overlap the 10q SRO. We reviewed the clinical phenotype of patients with similar deletions and suggest the presence of two new SROs, one associated with microcephaly, growth and psychomotor retardation, and the other associated to genital anomalies. Interestingly, we narrowed those regions to segments encompassing five and two genes, respectively. FGFR2, NSMCE4A, and ATE1 were suggested as candidates for facial dysmorphism, growth cessation, and heart defects, respectively. WDR11 was linked to idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Its haploinsufficiency could play a crucial role in the genital anomalies of these patients. © 2015 Wiley Periodicals, Inc. |
Author | Chouery, Eliane Choucair, Nancy Fawaz, Ali Mégarbané, André Abou Ghoch, Joelle |
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Cites_doi | 10.1002/pd.1252 10.1002/ajmg.a.37014 10.1002/ajmg.a.31053 10.1111/j.1399-0004.2008.01115.x 10.1016/j.pedneo.2012.10.010 10.1002/ajmg.a.36949 10.1002/(SICI)1096-8628(19980428)77:1<60::AID-AJMG13>3.0.CO;2-M 10.1016/j.bmcl.2014.08.013 10.1186/1755-8166-2-25 10.1016/j.ejmg.2013.11.002 10.1002/ajmg.a.32316 10.1002/ajmg.a.36662 10.1016/j.ajhg.2010.08.018 10.1055/s-0031-1293512 10.1007/BF00291317 10.1002/ajmg.a.20220 10.1073/pnas.071586898 10.1126/science.1069531 10.1002/ajmg.a.32705 10.1136/jmg.26.1.58 10.1111/j.1399-0004.2004.00218.x 10.1046/j.1523-1755.2000.00412.x 10.1111/j.1365-2958.2005.04531.x |
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Keywords | microcephaly psychomotor retardation interstitial deletion monosomy 10q growth critical region genital anomalies intellectual disability chromosomal microarray analysis |
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References | Vera-Carbonell A, López-González V, Bafalliu JA, Ballesta-Martínez MJ, Fernández A, Guillén-Navarro E, López-Expósito I. 2015. Clinical comparison of 10q26 overlapping deletions: Delineating the critical region for urogenital anomalies. Am J Med Genet Part A 167A:786-790. Hajihosseini MK, Wilson S, De Moerlooze L, Dickson C. 2001. A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes. Proc Natl Acad Sci USA 98:3855-3860. Lewandowski RC, Jr, Kukolich MK, Sears JW, Mankinen CB. 1978. Partial deletion10q. Hum Genet 42:339-343. Scigliano S, Grégoire MJ, Schmitt M, Jonveaux PH, LeHeup B. 2004. Terminal deletion of the long arm of chromosome 10. Clin Genet 65:294-298. Kehrer-Sawatzki H, Daumiller E, Müller-Navia J, Kendziorra H, Rossier E, du Bois G, Barbi G. 2005. Interstitial deletion del(10)(q25.2q25.3 approximately 26.11)-case report and review of the literature. Prenat Diagn 25:954-959. Mardo V, Squibb EE, Braverman N, Hoover-Fong JE, Migeon C, Batista DAS, Thomas GH. 2008. Molecular cytogenetic analysis of a de novo interstitial deletion of chromosome 10q (q25.3q26.13) in a male child with ambiguous genitalia: Evidence for a new critical region for genital development. Am J Med Genet Part A 146A:2293-2297. Miller ND, Nance MA, Wohler ES, Hoover-Fong JE, Lisi E, Thomas GH, Pevsner J. 2009. Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: Evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function. Am J Med Genet Part A 149A:669-680. Rooney DE, Williams K, Coleman DV, Habel A. 1989. A case of interstitial deletion of 10q25.2-q26.1. J Med Genet 26:58-60. Kim H-G, Ahn J-W, Kurth I, Ullmann R, Kim H-T, Kulharya A, Ha K-S, Itokawa Y, Meliciani I, Wenzel W, Lee D, Rosenberger G, Ozata M, Bick DP, Sherins RJ, Nagase T, Tekin M, Kim S-H, Kim C-H, Ropers H-H, Gusella JF, Kalscheuer V, Choi CY, Layman LC. 2010. WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet 87:465-479. Courtens W, Wuyts W, Rooms L, Pera SB, Wauters J. 2006. A subterminal deletion of the long arm of chromosome 10: A clinical report and review. Am J Med Genet Part A 140A:402-409. Irving M, Hanson H, Turnpenny P, Brewer C, Ogilvie CM, Davies A, Berg J. 2003. Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? A report of 15 de novo and familial cases. Am J Med Genet Part A 123A:153-163. Plaisancié J, Bouneau L, Cances C, Garnier C, Benesteau J, Leonard S, Bourrouillou G, Calvas P, Vigouroux A, Julia S, Bieth E. 2014. Distal 10q monosomy: New evidence for a neurobehavioral condition? Eur J Med Genet 57:47-53. Miyamoto N, Yoshida M, Kuratani S, Matsuo I, Aizawa S. 1997. Defects of urogenital development in mice lacking Emx2. Dev Camb Engl 124:1653-1664. Ogata T, Muroya K, Sasagawa I, Kosho T, Wakui K, Sakazume S, Ito K, Matsuo N, Ohashi H, Nagai T. 2000. Genetic evidence for a novel gene(s) involved in urogenital development on 10q26. Kidney Int 58:2281-2290. Gunnarsson C, Graffmann B, Jonasson J. 2009. Chromosome r(10)(p15.3q26.12) in a newborn child: Case report. Mol Cytogenet 2:25. Tosur M, Geary CA, Matalon R, Radhakrishnan RS, Swischuk LE, Tarry WF, Dong J, Lee PDK. 2015. Persistence of müllerian duct structures in a genetic male with distal monosomy10q. Am J Med Genet Part A 167:791-796. Hu B, Liao C, Millson SH, Mollapour M, Prodromou C, Pearl LH, Piper PW, Panaretou B. 2005. Qri2/Nse4, a component of the essential Smc5/6 DNA repair complex. Mol Microbiol 55:1735-1750. Kwon YT, Kashina AS, Davydov IV, Hu R-G, An JY, Seo JW, Du F, Varshavsky A. 2002. An essential role of N-terminal arginylation in cardiovascular development. Science 297:96-99. Subramanian T, Ren H, Subramanian KL, Sunkara M, Onono FO, Morris AJ, Spielmann HP. 2014. Design and synthesis of non-hydrolyzable homoisoprenoid α-monofluorophosphonate inhibitors of PPAPDC family integral membrane lipid phosphatases. Bioorg Med Chem Lett 24:4414-4417. Petersen B, Strassburg HM, Feichtinger W, Kress W, Schmid M. 1998. Terminal deletion of the long arm of chromosome 10: A new case with breakpoint in q25.3. Am J Med Genet 77:60-62. Yatsenko SA, Kruer MC, Bader PI, Corzo D, Schuette J, Keegan CE, Nowakowska B, Peacock S, Cai WW, Peiffer DA, Gunderson KL, Ou Z, Chinault AC, Cheung SW. 2009. Identification of critical regions for clinical features of distal 10q deletion syndrome. Clin Genet 76:54-62. Chang Y-T, Chou I-C, Wang C-H, Chin Z-N, Kuo H-T, Lin C-C, Tsai C-H, Tsai F-J. 2013. Chromosome 10q deletion del (10)(q26.1q26.3) is associated with cataract. Pediatr Neonatol 54:132-136. Piard J, Mignot B, Arbez-Gindre F, Aubert D, Morel Y, Roze V, McElreavy K, Jonveaux P, Valduga M, Van Maldergem L. 2014. Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3-q26.12 microdeletion encompassing EMX2. Am J Med Genet Part A 164A:2618-2622. Chitkara R, Rajani A, Bernstein J, Shah S, Hahn J, Barnes P, Hintz S. 2011. Newborn with prenatally diagnosed choroidal fissure cyst and panhypopituitarism and review of the literature. Am J Perinatol Rep 1:111-114. 2006; 140A 1997; 124 2004; 65 2010; 87 2009; 76 2011; 1 2009; 149A 2000; 58 2013; 54 2002; 297 2014; 164A 1978; 42 2015; 167 2015; 167A 2008; 146A 2014; 57 2014; 24 1989; 26 2009; 2 2005; 55 1998; 77 2003; 123A 2001; 98 2005; 25 e_1_2_6_21_1 e_1_2_6_10_1 e_1_2_6_20_1 e_1_2_6_9_1 e_1_2_6_8_1 Miyamoto N (e_1_2_6_15_1) 1997; 124 e_1_2_6_19_1 e_1_2_6_5_1 e_1_2_6_4_1 e_1_2_6_7_1 e_1_2_6_6_1 e_1_2_6_13_1 e_1_2_6_25_1 e_1_2_6_14_1 e_1_2_6_24_1 e_1_2_6_3_1 e_1_2_6_11_1 e_1_2_6_23_1 e_1_2_6_2_1 e_1_2_6_12_1 e_1_2_6_22_1 e_1_2_6_17_1 e_1_2_6_18_1 e_1_2_6_16_1 |
References_xml | – volume: 25 start-page: 954 year: 2005 end-page: 959 article-title: Interstitial deletion del(10)(q25.2q25.3 approximately 26.11)—case report and review of the literature publication-title: Prenat Diagn – volume: 65 start-page: 294 year: 2004 end-page: 298 article-title: Terminal deletion of the long arm of chromosome 10 publication-title: Clin Genet – volume: 98 start-page: 3855 year: 2001 end-page: 3860 article-title: A splicing switch and gain‐of‐function mutation in FgfR2‐IIIc hemizygotes causes Apert/Pfeiffer‐syndrome‐like phenotypes publication-title: Proc Natl Acad Sci USA – volume: 54 start-page: 132 year: 2013 end-page: 136 article-title: Chromosome 10q deletion del (10)(q26.1q26.3) is associated with cataract publication-title: Pediatr Neonatol – volume: 167A start-page: 786 year: 2015 end-page: 790 article-title: Clinical comparison of 10q26 overlapping deletions: Delineating the critical region for urogenital anomalies publication-title: Am J Med Genet Part A – volume: 2 start-page: 25 year: 2009 article-title: Chromosome r(10)(p15.3q26.12) in a newborn child: Case report publication-title: Mol Cytogenet – volume: 123A start-page: 153 year: 2003 end-page: 163 article-title: Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? A report of 15 de novo and familial cases publication-title: Am J Med Genet Part A – volume: 146A start-page: 2293 year: 2008 end-page: 2297 article-title: Molecular cytogenetic analysis of a de novo interstitial deletion of chromosome 10q (q25.3q26.13) in a male child with ambiguous genitalia: Evidence for a new critical region for genital development publication-title: Am J Med Genet Part A – volume: 24 start-page: 4414 year: 2014 end-page: 4417 article-title: Design and synthesis of non‐hydrolyzable homoisoprenoid α‐monofluorophosphonate inhibitors of PPAPDC family integral membrane lipid phosphatases publication-title: Bioorg Med Chem Lett – volume: 57 start-page: 47 year: 2014 end-page: 53 article-title: Distal 10q monosomy: New evidence for a neurobehavioral condition? publication-title: Eur J Med Genet – volume: 149A start-page: 669 year: 2009 end-page: 680 article-title: Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: Evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function publication-title: Am J Med Genet Part A – volume: 124 start-page: 1653 year: 1997 end-page: 1664 article-title: Defects of urogenital development in mice lacking Emx2 publication-title: Dev Camb Engl – volume: 140A start-page: 402 year: 2006 end-page: 409 article-title: A subterminal deletion of the long arm of chromosome 10: A clinical report and review publication-title: Am J Med Genet Part A – volume: 55 start-page: 1735 year: 2005 end-page: 1750 article-title: Qri2/Nse4, a component of the essential Smc5/6 DNA repair complex publication-title: Mol Microbiol – volume: 87 start-page: 465 year: 2010 end-page: 479 article-title: WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome publication-title: Am J Hum Genet – volume: 42 start-page: 339 year: 1978 end-page: 343 article-title: Partial deletion10q publication-title: Hum Genet – volume: 1 start-page: 111 year: 2011 end-page: 114 article-title: Newborn with prenatally diagnosed choroidal fissure cyst and panhypopituitarism and review of the literature publication-title: Am J Perinatol Rep – volume: 297 start-page: 96 year: 2002 end-page: 99 article-title: An essential role of N‐terminal arginylation in cardiovascular development publication-title: Science – volume: 167 start-page: 791 year: 2015 end-page: 796 article-title: Persistence of müllerian duct structures in a genetic male with distal monosomy10q publication-title: Am J Med Genet Part A – volume: 77 start-page: 60 year: 1998 end-page: 62 article-title: Terminal deletion of the long arm of chromosome 10: A new case with breakpoint in q25.3 publication-title: Am J Med Genet – volume: 26 start-page: 58 year: 1989 end-page: 60 article-title: A case of interstitial deletion of 10q25.2–q26.1 publication-title: J Med Genet – volume: 76 start-page: 54 year: 2009 end-page: 62 article-title: Identification of critical regions for clinical features of distal 10q deletion syndrome publication-title: Clin Genet – volume: 58 start-page: 2281 year: 2000 end-page: 2290 article-title: Genetic evidence for a novel gene(s) involved in urogenital development on 10q26 publication-title: Kidney Int – volume: 164A start-page: 2618 year: 2014 end-page: 2622 article-title: Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3–q26.12 microdeletion encompassing EMX2 publication-title: Am J Med Genet Part A – ident: e_1_2_6_9_1 doi: 10.1002/pd.1252 – ident: e_1_2_6_23_1 doi: 10.1002/ajmg.a.37014 – ident: e_1_2_6_4_1 doi: 10.1002/ajmg.a.31053 – ident: e_1_2_6_25_1 doi: 10.1111/j.1399-0004.2008.01115.x – ident: e_1_2_6_2_1 doi: 10.1016/j.pedneo.2012.10.010 – ident: e_1_2_6_24_1 doi: 10.1002/ajmg.a.36949 – ident: e_1_2_6_17_1 doi: 10.1002/(SICI)1096-8628(19980428)77:1<60::AID-AJMG13>3.0.CO;2-M – ident: e_1_2_6_22_1 doi: 10.1016/j.bmcl.2014.08.013 – ident: e_1_2_6_5_1 doi: 10.1186/1755-8166-2-25 – volume: 124 start-page: 1653 year: 1997 ident: e_1_2_6_15_1 article-title: Defects of urogenital development in mice lacking Emx2 publication-title: Dev Camb Engl contributor: fullname: Miyamoto N – ident: e_1_2_6_19_1 doi: 10.1016/j.ejmg.2013.11.002 – ident: e_1_2_6_13_1 doi: 10.1002/ajmg.a.32316 – ident: e_1_2_6_18_1 doi: 10.1002/ajmg.a.36662 – ident: e_1_2_6_10_1 doi: 10.1016/j.ajhg.2010.08.018 – ident: e_1_2_6_3_1 doi: 10.1055/s-0031-1293512 – ident: e_1_2_6_12_1 doi: 10.1007/BF00291317 – ident: e_1_2_6_8_1 doi: 10.1002/ajmg.a.20220 – ident: e_1_2_6_6_1 doi: 10.1073/pnas.071586898 – ident: e_1_2_6_11_1 doi: 10.1126/science.1069531 – ident: e_1_2_6_14_1 doi: 10.1002/ajmg.a.32705 – ident: e_1_2_6_20_1 doi: 10.1136/jmg.26.1.58 – ident: e_1_2_6_21_1 doi: 10.1111/j.1399-0004.2004.00218.x – ident: e_1_2_6_16_1 doi: 10.1046/j.1523-1755.2000.00412.x – ident: e_1_2_6_7_1 doi: 10.1111/j.1365-2958.2005.04531.x |
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SubjectTerms | Child chromosomal microarray analysis Chromosome Deletion Chromosomes, Human, Pair 10 - genetics critical region genital anomalies growth Humans Infant Infant, Newborn intellectual disability interstitial deletion Male microcephaly Microcephaly - complications Microcephaly - genetics monosomy 10q Oligonucleotide Array Sequence Analysis psychomotor retardation Urogenital Abnormalities - complications Urogenital Abnormalities - genetics |
Title | 10q26.1 Microdeletion: Redefining the critical regions for microcephaly and genital anomalies |
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