Skewed X chromosome inactivation in fraternal female twins results in moderately severe and mild haemophilia B
Female carriers of haemophilia B are usually asymptomatic; however, the disease resulting from different pathophysiological mechanisms has rarely been documented in females. In this study, we investigated the mechanisms responsible for haemophilia B in fraternal female twins. We sequenced the factor...
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| Published in | Haemophilia : the official journal of the World Federation of Hemophilia Vol. 14; no. 5; pp. 1088 - 1093 |
|---|---|
| Main Authors | , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Oxford, UK
Blackwell Publishing Ltd
01.09.2008
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| Subjects | |
| Online Access | Get full text |
| ISSN | 1351-8216 1365-2516 1365-2516 |
| DOI | 10.1111/j.1365-2516.2008.01786.x |
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| Abstract | Female carriers of haemophilia B are usually asymptomatic; however, the disease resulting from different pathophysiological mechanisms has rarely been documented in females. In this study, we investigated the mechanisms responsible for haemophilia B in fraternal female twins. We sequenced the factor IX gene (F9) of the propositus, her father, a severe haemophilia B patient and the other family members. X chromosome inactivation was assessed by the methylation‐sensitive HpaII‐PCR assay using X‐linked polymorphisms in human phosphoglycerate kinase 1 gene (PGK1) and glutamate receptor ionotropic AMPA 3 gene (GRIA3). The twins were found to be heterozygotes with a nonsense mutation (p.Arg384X) inherited from their father. The propositus, more severely affected twin, exhibited a significantly higher percentage of inactivation in the maternally derived X chromosome carrying a normal F9. The other twin also showed a skewed maternal X inactivation, resulting in a patient with mild haemophilia B. Thus, the degree of skewing of maternal X inactivation is closely correlated with the coagulation parameters and the clinical phenotypes of the twins. Furthermore, we identified a crossing‐over in the Xq25–26 region of the maternal X chromosome of the more severely affected twin. This crossing‐over was absent in the other twin, consistent with their fraternal state. Differently skewed X inactivation in the fraternal female twins might cause moderately severe and mild haemophilia B phenotypes, respectively. |
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| AbstractList | Female carriers of haemophilia B are usually asymptomatic; however, the disease resulting from different pathophysiological mechanisms has rarely been documented in females. In this study, we investigated the mechanisms responsible for haemophilia B in fraternal female twins. We sequenced the factor IX gene (F9) of the propositus, her father, a severe haemophilia B patient and the other family members. X chromosome inactivation was assessed by the methylation-sensitive HpaII-PCR assay using X-linked polymorphisms in human phosphoglycerate kinase 1 gene (PGK1) and glutamate receptor ionotropic AMPA 3 gene (GRIA3). The twins were found to be heterozygotes with a nonsense mutation (p.Arg384X) inherited from their father. The propositus, more severely affected twin, exhibited a significantly higher percentage of inactivation in the maternally derived X chromosome carrying a normal F9. The other twin also showed a skewed maternal X inactivation, resulting in a patient with mild haemophilia B. Thus, the degree of skewing of maternal X inactivation is closely correlated with the coagulation parameters and the clinical phenotypes of the twins. Furthermore, we identified a crossing-over in the Xq25-26 region of the maternal X chromosome of the more severely affected twin. This crossing-over was absent in the other twin, consistent with their fraternal state. Differently skewed X inactivation in the fraternal female twins might cause moderately severe and mild haemophilia B phenotypes, respectively. Female carriers of haemophilia B are usually asymptomatic; however, the disease resulting from different pathophysiological mechanisms has rarely been documented in females. In this study, we investigated the mechanisms responsible for haemophilia B in fraternal female twins. We sequenced the factor IX gene (F9) of the propositus, her father, a severe haemophilia B patient and the other family members. X chromosome inactivation was assessed by the methylation-sensitive HpaII-PCR assay using X-linked polymorphisms in human phosphoglycerate kinase 1 gene (PGK1) and glutamate receptor ionotropic AMPA 3 gene (GRIA3). The twins were found to be heterozygotes with a nonsense mutation (p.Arg384X) inherited from their father. The propositus, more severely affected twin, exhibited a significantly higher percentage of inactivation in the maternally derived X chromosome carrying a normal F9. The other twin also showed a skewed maternal X inactivation, resulting in a patient with mild haemophilia B. Thus, the degree of skewing of maternal X inactivation is closely correlated with the coagulation parameters and the clinical phenotypes of the twins. Furthermore, we identified a crossing-over in the Xq25-26 region of the maternal X chromosome of the more severely affected twin. This crossing-over was absent in the other twin, consistent with their fraternal state. Differently skewed X inactivation in the fraternal female twins might cause moderately severe and mild haemophilia B phenotypes, respectively.Female carriers of haemophilia B are usually asymptomatic; however, the disease resulting from different pathophysiological mechanisms has rarely been documented in females. In this study, we investigated the mechanisms responsible for haemophilia B in fraternal female twins. We sequenced the factor IX gene (F9) of the propositus, her father, a severe haemophilia B patient and the other family members. X chromosome inactivation was assessed by the methylation-sensitive HpaII-PCR assay using X-linked polymorphisms in human phosphoglycerate kinase 1 gene (PGK1) and glutamate receptor ionotropic AMPA 3 gene (GRIA3). The twins were found to be heterozygotes with a nonsense mutation (p.Arg384X) inherited from their father. The propositus, more severely affected twin, exhibited a significantly higher percentage of inactivation in the maternally derived X chromosome carrying a normal F9. The other twin also showed a skewed maternal X inactivation, resulting in a patient with mild haemophilia B. Thus, the degree of skewing of maternal X inactivation is closely correlated with the coagulation parameters and the clinical phenotypes of the twins. Furthermore, we identified a crossing-over in the Xq25-26 region of the maternal X chromosome of the more severely affected twin. This crossing-over was absent in the other twin, consistent with their fraternal state. Differently skewed X inactivation in the fraternal female twins might cause moderately severe and mild haemophilia B phenotypes, respectively. Female carriers of haemophilia B are usually asymptomatic; however, the disease resulting from different pathophysiological mechanisms has rarely been documented in females. In this study, we investigated the mechanisms responsible for haemophilia B in fraternal female twins. We sequenced the factor IX gene ( F9 ) of the propositus, her father, a severe haemophilia B patient and the other family members. X chromosome inactivation was assessed by the methylation‐sensitive Hpa II‐PCR assay using X‐linked polymorphisms in human phosphoglycerate kinase 1 gene ( PGK1 ) and glutamate receptor ionotropic AMPA 3 gene ( GRIA3 ). The twins were found to be heterozygotes with a nonsense mutation (p.Arg384X) inherited from their father. The propositus, more severely affected twin, exhibited a significantly higher percentage of inactivation in the maternally derived X chromosome carrying a normal F9 . The other twin also showed a skewed maternal X inactivation, resulting in a patient with mild haemophilia B. Thus, the degree of skewing of maternal X inactivation is closely correlated with the coagulation parameters and the clinical phenotypes of the twins. Furthermore, we identified a crossing‐over in the Xq25–26 region of the maternal X chromosome of the more severely affected twin. This crossing‐over was absent in the other twin, consistent with their fraternal state. Differently skewed X inactivation in the fraternal female twins might cause moderately severe and mild haemophilia B phenotypes, respectively. |
| Author | TAKAGI, A. KATSUMI, A. OKUMURA, K. MATSUSHITA, T. YAMAMOTO, K. OZEKI, M. NAOE, T. KOJIMA, T. MURATE, T. FUJIMORI, Y. |
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| References | Camerino G, Grzeschik KH, Jaye M et al. Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus). PNAS 1984; 81: 498-502. Brown C, Robinson W. The causes and consequences of random and non-random X chromosome inactivation in humans. Clin Genet 2000; 58: 353-63. Lee S-T, McGlennen RC, Litz CE. Clonal determination by the fragile X (FMR1) and phosphoglycerate kinase (PGK) genes in hematological malignancies. Cancer Res 1994; 54: 5212-6. Spinelli A, Schmid W, Straub P. Christmas disease (haemophilia B) in a girl with deletion of the short arm of one X-chromosome (functional Turner syndrome). Br J Haematol 1976; 34: 129-35. Cau M, Addis M, Congiu R et al. A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome. J Hum Genet 2006; 51: 1030-6. Sellner LN, Price PJ. Segmental isodisomy and skewed X-inactivation resulting in haemophilia B in a female. Br J Haematol, 2005; 131: 410-1. Yoshitake S, Schach BG, Foster DC, Davie EW, Kurachi K. Complete nucleotide sequences of the gene for human factor IX (antihemophilic factor B). Biochemistry 1985; 24: 3736-50. Driscoll MC, Bouhassira E, Aledort LM. A codon 338 nonsense mutation in the factor IX gene in unrelated hemophilia B patients: factor IX338 New York. Blood 1989; 74: 737-42. Di Paola J, Goldman T, Qian Q, Patil S, Schute B. Breakpoint of a balanced translocation (X:14) (q27.1;q32.3) in a girl with severe hemophilia B maps proximal to the factor IX gene. J Thromb Haemost 2004; 2: 437-40. Côté G, Gyftodimou J. Twinning and mitotic crossing-over: some possibilities and their implications. Am J Hum Genet 1991; 49: 120-30. Yamakage N, Ikejiri M, Okumura K et al. A case of coagulation factor V deficiency caused by compound heterozygous mutations in the factor V gene. Haemophilia 2006; 12: 172-8. Allen R, Zoghbi H, Moseley A, Rosenblatt H, Belmont J. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 1992; 51: 1229-39. Belmont J. Genetic control of X inactivation and processes leading to X-inactivation skewing. Am J Hum Genet 1996; 58: 1101-8. Lyon MF. Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature 1961; 190: 372-3. Krepischi-Santos ACV, Carneiro JDA, Svartman M, Bendit I, Odone-Filho V, Vianna-Morgante AM. Deletion of the factor IX gene as a result of translocation t (X;1) in a girl affected by haemophilia B. Br J Haematol 2001; 113: 616-20. Sabol S, Hu S, Hamer D. A functional polymorphism in the monoamine oxidase A gene promoter. Hum Genet 1998; 103: 273-9. Schröder W, Wulff K, Wollina K, Herrmann F. Haemophilia B in female twins caused by a point mutation in one factor IX gene and nonrandom inactivation patterns of the X-chromosomes. Thromb Haemost 1997; 78: 1347-51. Schröder W, Poetsch M, Gazda H et al. A de novo translocation 46,X,t(X;15) causing haemophilia B in a girl: a case report. Br J Haematol 1998; 100: 750-7. Toyozumi H, Kojima T, Matsushita T, Hamaguchi M, Tanimoto M, Saito H. Diagnosis of hemophilia B carriers using two novel dinucleotide polymorphisms and Hha I RFLP of the factor IX gene in Japanese subjects. Thromb Haemost 1995; 4: 1009-14. Anson D, Choo K, Rees D et al. The gene structure of human anti-haemophilic factor IX. EMBO J 1984; 3: 1053-60. Thompson AR. Structure, function, and molecular defects of factor IX. Blood 1986; 67: 565-72. Ørstavik KH, Ørstavik RE, Schwartz M. Skewed X chromosome inactivation in a female with haemophilia B and in her non-carrier daughter: a genetic influence on X chromosome inactivation? J Med Genet 1999; 36: 865-6. Kojima T, Tanimoto M, Kamiya T et al. Possible absence of common polymorphisms in coagulation factor IX gene in Japanese subjects. Blood 1987; 69: 349-52. Gécz J, Barnett S, Liu J et al. Characterization of the Human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation. Genomics 1999; 62: 356-68. 1987; 69 1989; 74 2001; 113 1991; 49 1984; 81 1976; 34 2005; 131 2006; 51 2000; 58 2006; 12 1984; 3 1986; 67 1997; 78 1999; 36 1998; 103 2004; 2 1999; 62 1961; 190 1998; 100 1996; 58 1995; 4 1985; 24 1994; 54 1992; 51 Driscoll MC (e_1_2_6_22_2) 1989; 74 Côté G (e_1_2_6_23_2) 1991; 49 Allen R (e_1_2_6_20_2) 1992; 51 e_1_2_6_7_2 e_1_2_6_18_2 e_1_2_6_19_2 Thompson AR (e_1_2_6_2_2) 1986; 67 e_1_2_6_4_2 e_1_2_6_3_2 e_1_2_6_6_2 Schröder W (e_1_2_6_8_2) 1997; 78 e_1_2_6_5_2 e_1_2_6_12_2 e_1_2_6_13_2 Belmont J (e_1_2_6_24_2) 1996; 58 e_1_2_6_10_2 Toyozumi H (e_1_2_6_21_2) 1995; 4 e_1_2_6_11_2 Lee S‐T (e_1_2_6_17_2) 1994; 54 Ørstavik KH (e_1_2_6_9_2) 1999; 36 e_1_2_6_16_2 e_1_2_6_14_2 e_1_2_6_15_2 e_1_2_6_25_2 |
| References_xml | – reference: Thompson AR. Structure, function, and molecular defects of factor IX. Blood 1986; 67: 565-72. – reference: Sellner LN, Price PJ. Segmental isodisomy and skewed X-inactivation resulting in haemophilia B in a female. Br J Haematol, 2005; 131: 410-1. – reference: Schröder W, Wulff K, Wollina K, Herrmann F. Haemophilia B in female twins caused by a point mutation in one factor IX gene and nonrandom inactivation patterns of the X-chromosomes. Thromb Haemost 1997; 78: 1347-51. – reference: Di Paola J, Goldman T, Qian Q, Patil S, Schute B. Breakpoint of a balanced translocation (X:14) (q27.1;q32.3) in a girl with severe hemophilia B maps proximal to the factor IX gene. J Thromb Haemost 2004; 2: 437-40. – reference: Sabol S, Hu S, Hamer D. A functional polymorphism in the monoamine oxidase A gene promoter. Hum Genet 1998; 103: 273-9. – reference: Spinelli A, Schmid W, Straub P. Christmas disease (haemophilia B) in a girl with deletion of the short arm of one X-chromosome (functional Turner syndrome). Br J Haematol 1976; 34: 129-35. – reference: Lyon MF. Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature 1961; 190: 372-3. – reference: Kojima T, Tanimoto M, Kamiya T et al. Possible absence of common polymorphisms in coagulation factor IX gene in Japanese subjects. Blood 1987; 69: 349-52. – reference: Krepischi-Santos ACV, Carneiro JDA, Svartman M, Bendit I, Odone-Filho V, Vianna-Morgante AM. Deletion of the factor IX gene as a result of translocation t (X;1) in a girl affected by haemophilia B. Br J Haematol 2001; 113: 616-20. – reference: Belmont J. Genetic control of X inactivation and processes leading to X-inactivation skewing. Am J Hum Genet 1996; 58: 1101-8. – reference: Anson D, Choo K, Rees D et al. The gene structure of human anti-haemophilic factor IX. EMBO J 1984; 3: 1053-60. – reference: Allen R, Zoghbi H, Moseley A, Rosenblatt H, Belmont J. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 1992; 51: 1229-39. – reference: Camerino G, Grzeschik KH, Jaye M et al. Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus). PNAS 1984; 81: 498-502. – reference: Schröder W, Poetsch M, Gazda H et al. A de novo translocation 46,X,t(X;15) causing haemophilia B in a girl: a case report. Br J Haematol 1998; 100: 750-7. – reference: Yamakage N, Ikejiri M, Okumura K et al. A case of coagulation factor V deficiency caused by compound heterozygous mutations in the factor V gene. Haemophilia 2006; 12: 172-8. – reference: Cau M, Addis M, Congiu R et al. A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome. J Hum Genet 2006; 51: 1030-6. – reference: Driscoll MC, Bouhassira E, Aledort LM. A codon 338 nonsense mutation in the factor IX gene in unrelated hemophilia B patients: factor IX338 New York. Blood 1989; 74: 737-42. – reference: Lee S-T, McGlennen RC, Litz CE. Clonal determination by the fragile X (FMR1) and phosphoglycerate kinase (PGK) genes in hematological malignancies. Cancer Res 1994; 54: 5212-6. – reference: Toyozumi H, Kojima T, Matsushita T, Hamaguchi M, Tanimoto M, Saito H. Diagnosis of hemophilia B carriers using two novel dinucleotide polymorphisms and Hha I RFLP of the factor IX gene in Japanese subjects. Thromb Haemost 1995; 4: 1009-14. – reference: Yoshitake S, Schach BG, Foster DC, Davie EW, Kurachi K. Complete nucleotide sequences of the gene for human factor IX (antihemophilic factor B). 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| SubjectTerms | Blotting, Southern - methods crossing-over Diseases in Twins - genetics Factor IX - genetics Female haemophilia B Haplotypes Hemophilia B - genetics Humans Infant Mutation, Missense Pedigree Polymerase Chain Reaction - methods skewed inactivation twin Twins, Dizygotic - genetics X chromosome X Chromosome Inactivation |
| Title | Skewed X chromosome inactivation in fraternal female twins results in moderately severe and mild haemophilia B |
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