Two novel factor X gene mutations in a Chinese family with factor X deficiency.

Abstract:

:We report a factor X (FX)-deficient Chinese family with two novel FX gene (F10) mutations. Two sibling probands had a bleeding tendency since childhood. Both had very low FX:C (<0.01 IU/ml) and FX:Ag (5-6%) levels and were heterozygous for two novel F10 mutations, a 2-bp GC deletion involving nucleotides 33 and 34, leading to premature chain termination at residue 45, and a T237-->C mutation, leading to Phe71-->Ser. A family study confirmed that the mother had the 2-bp GC deletion and a type I FX deficiency. The father had the Phe71-->Ser mutation. Interestingly, a type I FX deficiency was also observed, suggesting that Phe71-->Ser, occurring at a site sandwiched between two Gla residues, might perturb FX protein stability.

journal_name

Ann Hematol

journal_title

Annals of hematology

authors

Au WY,Lam CC,Cheung WC,Kwong YL

doi

10.1007/s00277-003-0803-1

subject

Has Abstract

pub_date

2004-05-01 00:00:00

pages

304-6

issue

5

eissn

0939-5555

issn

1432-0584

journal_volume

83

pub_type

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