Haemophilia B in female twins caused by a point mutation in one factor IX gene and nonrandom inactivation patterns of the X-chromosomes

Thrombosis and Haemostasis

Volumn 78, Issue 5, 1997, Pages 1347-1351

  Schröder, Winnie ^a   Wulff, Karin ^a   Wollina, Karin ^b   Herrmann, Falko H ^a  

^a UNIVERSITY OF GREIFSWALD   (Germany)

^b FRIEDRICH SCHILLER UNIVERSITY JENA   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 9; CYSTEINE; TYROSINE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; DNA METHYLATION; FEMALE; HEMOPHILIA B; HETEROZYGOTE; HUMAN; HUMAN CELL; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; TWINS; X CHROMOSOME INACTIVATION;

EID: 1842331461     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0038-1665409     Document Type: Article

References (45)

1. Wollina K, Zintl F. Hämophilie bei Mädchen - eine Übersicht. Monatsschrift Kinderheilkunde 1996; 14: 830-5.
2. Clarke JTR, Greer WL, Strasberg PM, Pearce RD, Skoromowski MA, Ray PN. Hunter disease (Mucopolysaccharidosis Type II) associated with unbalanced inactivation of the X-chromosomes in a karyotypically normal girl. Am J Hum Genet 1991; 49: 289-97.
3. Azofeifa J, Voit T, Hübner Ch, Cremer M. X-chromosome methylation in manifesting and healthy carriers of dystrophinopaties: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes. Hum Genet 1995; 96: 167-76.
4. Aral B, de Saint Basile G, Al-Garawi S, Kamoun P, Ceballos-Picot I. Novel nonsense mutation in the hypoxanthine guanine phosphoribosyl-transferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient. Hum Mutation 1996; 7: 52-8.
5. Puck JM, Stewart CC, Nussbaum RL. Maximum likelihood analysis of human T-cell X chromosome inactivation patterns: Normal women versus carriers of X-linked severe combined Immunideficiency. Am J Hum Genet 1992; 50: 742-8.
6. Wengler G, Gorlin JB, Williamson JM, Rosen FS, Bing DH. Nonrandom inactivation of the X chromosome in early lineage hematopoetic cells in carriers of Wiskott-Aldrich syndrome. Blood 1995; 85: 2471-7.
7. Andrejew AN, Korenewskaja MI, Rutberg RA, Dukarevitch MZ, Pokrovskij P, Tokarew YN. Haemophilia A in a patient with testicular feminization. Thromb Diath Haemorrh 1985; 33: 208-11.
8. Jarczok K, Krawzyk-Kulus M, Molowidin J. Hemophilia in a female with gonadal dysgenesis and XX karyotype. Folia Haematol 1981; 108: 136-40.
9. Mori PG, Pasino M, Rosanda VC, Bisogni MC, Tonini GP, Scarabicchi SI. Hemophilia A in a 46,i(Xq) female. Brit J Med 1979; 43: 143-7.
10. Nilsson IM, Berggamann S, Reitalu J, Waldenström J. Haemophilia A in a "girl" with male sex chromatin pattern. Lancet 1959; 2: 264-70.
11. Panarello C, Acquila M, Caorino D, Gimello G, Pecoara M, Mori PG. Concomitant Turner Syndrome and hemophilia in a female with an idic (X) (p11) heterozygous at locus DXS52. Cytogenet Cell Genet 1992; 59: 241-2.
12. Lyon MF. Possible mechanisms of X-chromosome inactivation. Nature New Biol 1971; 232: 229-32.
13. Belmont JW. Genetic control of X inactivation and processes leading to X-inactivation skewing. Am J Hum Genet 1996; 58: 1101-8.
14. Ingerslev J, Schwartz M, Lamm LU, Kruse T, Bukh A, Stjernberg S. Female Haemophilia A in a family with seeming extreme bidirectional lyonization tendency: abnormal premature X-chromosome inactivation? Clin Genet 1989; 35: 41-8.
15. Coleman R, Genet SA, Harper JI, Wilkie AOM. Interaction of incontinentia pigmenti and factor VIII mutations in a female with biased X inactivation, resulting in haemophilia. J Med Genet 1993; 30: 497-500.
16. Kling S, Coffey AJ, Ljung R, Sjorin E, Nilsson IM, Holmberg L, Gianelli F. Moderate Haemophilia B in a female carrier caused by preferential inactivation of the paternal X-chromosome. Europ J Haematol 1991; 47: 257-61.
17. Wadelius C, Lindstedt M, Pigg M, Edberg N, Petterson U, Anvret M. Hemophilia B in a 46, XX female probably caused by non-random X-inactivation. Clinical Genetics 1993; 43: 1-4.
18. Wollina K, Bowen DJ, Syrbe G, Zintl F. Female twins with severe Christmas disease (Hemophilia B). Thromb Haemost 1993; 70: 774-6.
19. Sambrook J, Fritsch EF, Maniatis T (eds). Molecular cloning. Cold Spring Harbour Laboratory press 1989; pp 9.61-9.22.
20. Anson DS, Choo KH, Rees DJG, Gianelli G, Gould K, Huddleston JA, Brownlee GG. The gene structure of human antihaemophilic factor IX. EMBO J 1984; 3: 1053-60.
21. Mulligan L, Holden JAA, White BN. A DNA marker closely linked to the factor IX (Haemophilia B) gene. Hum Genet 1987; 75: 381-3.
22. Peake I. Registry of DNA polymorphisms within or close to the factor VIII and factor IX genes. Thromb Haemost 1992; 67: 277-80.
23. Wulff K, Schröder W, Wehnert M, Herrmann FH. Twenty five novel mutations of the factor IX gene in haemophilia B. Hum Mut 1995; 6: 346-8.
24. White MB, Carvalho M, Derse D, O'Brien SJ, Dean M. Detecting single base substitutions as heteroduplex polymorphisms. Genomics 1992; 12: 301-6.
25. Razin A, Shemer R. DNA methylation in early development. Hum Molec Genet 1995; 4: 1751-5.
26. Hendriks RW, Hinds H, Chen ZY, Craig IW. The hypervariable DXS255 locus contains a LINE-1 Repetitive element with a CpG island that is extensively methylated only on the active X-chromosome. Genomics 1992; 14: 598-603.
27. Fraser NJ, Boyd Y, Craigt I. Isolation and characterization of a human variable copy number tandem repeat at Xcen-p11.22. Genomics 1989: 5:144-8.
28. Brown RM, Brown GK. X chromosome inactivation and the diagnosis of X linked disease in females. J Med Genet 1993; 30: 177-84.
29. Yoshitake S, Schach B, Foster D, Davie EW, Kurachi K. Nucleotide sequence of the gene for Human factor IX (Antihemophilic factor B). Biochemistry 1985; 3736-50.
30. Gianelli F, Green PM, Sommer SS, Poon M-C, Ludwig M, Schwaab R, Reitsma PH, Goossens M, Yoshioka A, Breownlee GG. Haemophilia B (Sixth edition): a database of point mutations and short additions and deletions. Nucleic Acids Research 1996; 24: 103-18.
31. Revesz T, Schuler D, Goldschmidt B, Elodi S. Christmas disease in one pair of monocygotic twin girls, possible effect of lyonization. J Med Genet 1972; 9: 396-9.
32. Lusher JM, McMillan CW. Severe Factor VIII and factor IX deficiencies in females: Amer J Medicine 1978; 65: 637-48.
33. Kitchens CS. Discordance in a pair of identical twin carriers of factor IX deficiency. Am J Hematol 1987; 24: 225-30.
34. Mannucci PM, Coppola R, Lombardi R. Direct proof of extreme Lyonization as a cause of low factor VIII levels in females. Thromb Haemost 1978; 39: 544-5.
35. Bithell TC, Pizarro S, MacDiarmid WD. Variant of factor IX deficiency in a female with 45,X Turner's syndrome. Blood 1970; 36: 208-11.
36. Gilgenkrantz S, Briquel ME, Mandel JL, Oberle I. A case of a female hemophilia with a 46,XXr karyotype studied with X-chromosome cDNA probes. Hum Genet 1986; 72: 157-61.
37. Nisen P, Stamberg J, Ehrenpreis R, Velasco S, Shende A, Engelberg J, Karayalcin G, Waber L. The molecular basis of severe hemophilia in a girl. New Engl J Med 1986; 315: 1139-42.
38. Cattanach BM, Raspberry C. Identification of the Mus spretus Xce allele. Mouse Genome 1991; 89: 565-6.
39. Naumova AK, Plenge RM, Bird LM, Leppert M, Morgan K, Willard HF, Sapienza C. Heretability of X-Chromosome-inactivation phenotype in a large family. Am J Hum Genet 1996; 58: 1111-9.
40. Taylor SAM, Deugan KV, Lillicrap D. Somatic mosaicism and female to female transmission in a kindred with hemophilia B (factor IX deficiency). Proc Natl Acad Sci USA 1991; 88: 39-42.
41. Goodship J, Carter J, Burn J. X-inactivation patterns in monozygotic and dizygotic female twins. Am J Med Genet 1996; 61: 205-8.
42. Lubinski MS., Hall JG. Genomic imprinting, monocygous twinning, and X-inactivation. Lancet 1991; 337: 1288.
43. Redonnet-Vernhet I, Ploos van Amstel JK, Jansen RPM, Wevers RA, Salvayre R, Levade T. Uneven X inactivation in a female monozygotic twin pair with fabry disease and discordant expression of a novel mutation in the α-galactosidase A gene. J Med Genet 1996; 33: 682-8.
44. Heard E, Avner P. Role play in X-inactivation. Human Molec Genet 1994; 3: 1481-5.
45. Migeon B, Jeppesen P, Torchia BS, Fu S, Dunn MA, Axelman J, Schmeckpeper BJ, Fantes J, Zori R, Driscoll D. Lack of X-inactivation associated with maternal X isodisomy: Evidence for counting mechanism prior to X inactivation during human embryogenesis. Am J Hum Genet 1996; 58: 161-70.