title: Two novel factor VII gene mutations in a Chinese family with factor VII deficiency.
abstract: 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.
authors.affiliation: Department of Medicine, University of Hong Kong, Queen Mary Hospital.
authors.forename: W Y
authors.initials: WY
authors.lastname: Au
authors.forename: C C
authors.initials: CC
authors.lastname: Lam
authors.forename: E C
authors.initials: EC
authors.lastname: Chan
authors.forename: Y L
authors.initials: YL
authors.lastname: Kwong
mesh_terms: D002681:China / Q000208:ethnology; D005167:Factor VII / Q000235:genetics*; D005168:Factor VII Deficiency / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006723:Hong Kong; D006801:Humans; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation
chemical_list: D005167:Factor VII