Severe haemophilia A in a female resulting from an inherited gross deletion and a de novo codon deletion in the F8 gene

Haemophilia

Volumn 14, Issue 5, 2008, Pages 1094-1098

  Vencesla A ^a   Fuentes Prior, P ^a   Baena, M ^a   Quintana, M ^b   Baiget, M ^a   Tizzano, Eduardo F ^a  

^a HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^b HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

Author keywords

Deletion; F8 gene; Female; Haemophilia A; Quantitative PCR; Structural analysis

Indexed keywords

BLOOD CLOTTING FACTOR 8; DNA; PHENYLALANINE;

ARTICLE; CASE REPORT; CODON; DISEASE SEVERITY; DNA SEQUENCE; EXON; EXTRACHROMOSOMAL INHERITANCE; FEMALE; GENE DELETION; GENE MUTATION; GENETIC MARKER; HEMATOMA; HEMOPHILIA A; HETEROZYGOTE DETECTION; HUMAN; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION;

BASE SEQUENCE; CHILD, PRESCHOOL; CODON; DNA MUTATIONAL ANALYSIS; FACTOR VIII; FEMALE; GENE DELETION; HEMOPHILIA A; HUMANS; MALE; MODELS, MOLECULAR; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 51249090098     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2008.01816.x     Document Type: Article

References (19)

1. Antonarakis SE, Rossiter JP, Young M et al. Factor VIII gene inversions in severe hemophilia A: Results of an international consortium study. Blood 1995; 86: 2206-12.
2. Bagnall RD, Waseem N, Green PM, Giannelli F. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood 2002; 99: 168-74.
3. Woods-Samuels P, Kazazian HH, Antonarakis SE. Non-homologous recombination in the human genome: Deletions in the human factor VIII gene. Genomics 1991; 10: 94-101.
4. Cai XH, Wang XF, Dai J et al. Female hemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII. J Thromb Haemost 2006; 4: 1969-74.
5. David D, Morais S, Ventura C, Campos M. Female haemophiliac homozygous for the factor VIII intron 22 inversion mutation, with transcriptional inactivation of one of the factor VIII alleles. Haemophilia 2003; 9: 125-30.
6. Favier R, Lavergne J-M, Costa J-M et al. Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female. Blood 2000; 96: 4373-5.
7. Chuansumrit A, Sasanakul W, Goodeve A 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.
8. Loreth RM, El-Maarri O, Schröder J, Budde U, Herrmann FH, Oldenburg J. Haemophilia A in a female caused by coincidence of a Swyer syndrome and a missense mutation in factor VIII gene. Thromb Haemost 2006; 95: 747-8.
9. Rossetti LC, Radic CP, Larripa IB, De Brasi CD. Genotyping the hemophilia inversion hotspot by use of inverse PCR. Clin Chem 2005; 51: 1154-8.
10. Tizzano EF, Cornet M, Baiget M. Inversion of intron 1 of the factor VIII gene for direct molecular diagnosis of hemophilia A. Haematologica 2003; 88: 118-20.
11. VencesláA, Baena M, Fares Taie L, Cornet M, Baiget M, Tizzano EF Application of intron 9 and intron 25 dinucleotide repeats of the factor 8 gene to improve carrier diagnosis in haemophilia A. Haemophilia 2008; Apr 1; [Epub ahead of print].
12. David D, Moreira I, Lalloz MRA et al. Analysis of the essential sequences of the factor VIII gene in twelve haemophilia A patients by single-stranded conformation polymorphism. Blood Coagul Fibrinolysis 1994; 5: 257-64.
13. Tizzano EF, Barceló MJ, Baena M et al. Rapid identification of female haemophilia A carriers with deletions in the factor VIII gene by quantitative real-time PCR analysis. Thromb Haemost 2005; 94: 661-4.
14. Windsor S, Lyng A, Taylor SA, Ewenstein BM, Neufeld EJ, Lillicrap D. Severe haemophilia A in a female resulting from two de novo factor VIII mutations. Br J Haematol 1995; 90: 906-9.
15. Seeler, Vnencak J, Bassett, Gilbert MS, Michaelis. Severe haemophilia A in a female: A compound heterozygote with non-random X-inactivation. Haemophilia 1999; 5: 445-9.
16. Costa J-M, Vidaud D, Laurendeau I et al. Somatic mosaicism and compound heterozygosity in female hemophilia B. Blood 2000; 96: 1585-7.
17. Quan F, Janas J, Toth-Fejel S, Johnson DB, Wolford JK, Popovich BW. Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy. Am J Hum Genet 1997; 60: 160-5.
18. McGinniss MJ, Kazazian HH, Hoyer LW, Bi L, Inaba H, Antonarakis SE. Spectrum of mutations in CRM-positive and CRM-reduced hemophilia A. Genomics 1993; 15: 392-8.
19. Vencesla A, Corral-Rodriguez MA, Baena M et al. Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients - structural analysis of 20 missense mutations suggests new intermolecular binding sites. Blood 2008; 111: 3468-78.