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Two novel factor VII gene mutations in a Chinese family with factor VII deficiency
Author(s) -
Au W. Y.,
Lam C. C. K.,
Chan E. C.,
Kwong Y. L.
Publication year - 2000
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2000.02332.x
Subject(s) - missense mutation , nonsense mutation , mutation , genetics , proband , exon , nonsense , gene mutation , biology , gene
We report two novel factor VII (FVII) gene mutations in a Chinese family with FVII deficiency. The proband, a 55‐year‐old woman, was incidentally found to have right shoulder arthritis consistent with chronic haemophilic arthropathy. FVII studies showed a FVII activity of 0·02 iu/ml and a FVII antigen of 49%. Molecular analysis showed a double heterozygous state, with an exon 4 nonsense mutation (C6003→A; Cys61→Term) and an exon 8 missense mutation (T10902→G; Cys329→Gly) that disrupted a Cys310/Cys329 disulphide bond. The genotypes and phenotypes were correlated in the patient's daughters. Two daughters were heterozygous for the Cys61→Term mutation and showed a type 1 FVII gene mutation phenotype consistent with a nonsense mutation. One daughter was heterozygous for the Csy329→Gly mutation and showed a type 2 mutation phenotype consistent with a missense mutation. These are the first reported FVII gene mutations in the Chinese people.