Molecular characterization of female hemophilia A by multiplex ligation-dependent probe amplification analysis and X-chromosome inactivation study

Blood Coagulation and Fibrinolysis

Volumn 22, Issue 3, 2011, Pages 211-214

  Song, Min Jung ^a   Kim, Hee Jin ^a,b   Yoo, Ki Young ^c   Park, In Ae ^b   Lee, Ki O ^b   Ki, Chang Seok ^a   Kim, Sun Hee ^a  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b Samsung Medical Center   (South Korea)

^c Korea Hemophilia Foundation Clinic   (South Korea)

Author keywords

F8; female hemophilia A; Korea; multiplex ligation dependent probe amplification; mutation; X chromosome inactivation

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CHILD; DELETION MUTANT; EXON; FEMALE; GENE DUPLICATION; GENE MUTATION; HEMOPHILIA A; HETEROZYGOTE; HUMAN; MOLECULAR DYNAMICS; MOLECULAR GENETICS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; X CHROMOSOME INACTIVATION;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD, PRESCHOOL; CHROMOSOME INVERSION; FACTOR VIII; FEMALE; HEMOPHILIA A; HETEROZYGOTE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; SEQUENCE DELETION; X CHROMOSOME INACTIVATION;

EID: 79955063141     PISSN: 09575235     EISSN: None     Source Type: Journal    
DOI: 10.1097/MBC.0b013e328343f873     Document Type: Article

References (11)

1. Naylor J, Brinke A, Hassock S,Green PM, Giannelli F. Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions. Hum Mol Genet 1993; 2:1773-1778. (Pubitemid 23326598)
2. Favier R, Lavergne JM, Costa JM, Caron C, Mazurier C, Viemont M, et al. Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female. Blood 2000; 96:4373-4375.
3. Vencesla A, Fuentes-Prior P, Baena M, Quintana M, Baiget M, Tizzano EF. Severe haemophilia A in a female resulting from an inherited gross deletion and a de novo codon deletion in the F8 gene. Haemophilia 2008; 14:1094-1098.
4. Cai XH, Wang XF, Dai J, Fang Y, Ding QL, Xie F, et al. Female hemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII. J Thromb Haemost 2006; 4:1969-1974. (Pubitemid 44226776)
5. Chuansumrit A, Sasanakul W, Goodeve A, Treratvirapong T, Parinayok R, Pintadit P, et al. Inversion of intron 22 of the factor VIII gene in a girl with severe hemophilia A and Turner's syndrome. Thromb Haemost 1999; 82:1379. (Pubitemid 29473823)
6. Loreth RM, El-Maarri O, Schroder J, Budde U, Herrmann FH, Oldenburg J. Haemophilia A in a female caused by coincidence of a Swyer syndromeand a missense mutation in factor VIII gene. ThrombHaemost 2006; 95:747-748.
7. Liu Q, Nozari G, Sommer SS. Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A. Blood 1998; 92:1458-1459. (Pubitemid 28369064)
8. Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. 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; 51:1229-1239. (Pubitemid 23001082)
9. Hill M, Deam S, Gordon B, Dolan G. Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype. Haemophilia 2005; 11:133-141. (Pubitemid 40468061)
10. Pavlova A, Brondke H, Musebeck J, Pollmann H, Srivastava A, Oldenburg J. Molecular mechanisms underlying hemophilia A phenotype in seven females. J Thromb Haemost 2009; 7:976-982.
11. Orstavik KH. X chromosome inactivation in clinical practice. Hum Genet 2009; 126:363-373.