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Seven novel and four recurrent point mutations in the factor VIII (F8C) gene

✍ Scribed by Nadja Bogdanova; Beate Lemcke; Arseni Markoff; Hartmut Pollmann; Bernd Dworniczak; Antonin Eigel; Jürgen Horst

Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
30 KB
Volume
18
Category
Article
ISSN
1059-7794

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✦ Synopsis

Haemophilia A is a X-linked bleeding disorder, caused by deficiency in the activity of coagulation factor VIII due to mutations in the corresponding gene. The most common defect in patients is an inversion of the factor VIII gene that accounts for nearly 45% of individuals with severe hemophilia A. Point mutations and small deletions/insertions are responsible for the majority of cases with moderate to mild clinical course and for half of the severe hemophilia A occurrences. The majority of these mutations are "private", because of the high mutation rate for this particular gene. We report on eleven pathological changes in the factor VIII sequence detected in male patients with haemophilia A or in female obligate carriers. Seven of these mutations are novel [ [ E204N, E265X, M320T, F436C, S535C, N2129M and R2307P] ] and four have been previously identified [ [ V162M, R527W, R1966X, and R2159C] ] . Genotype-phenotype correlations and computer prediction analysis on the effect of missense mutations on the secondary structure of the factor VIII protein are performed and the relationships evaluated.

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