Two novel factor VII gene mutations in a Chinese family with factor VII deficiency

Br J Haematol. 2000 Oct;111(1):143-5. doi: 10.1046/j.1365-2141.2000.02332.x.

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.

MeSH terms

  • China / ethnology
  • Factor VII / genetics*
  • Factor VII Deficiency / genetics*
  • Female
  • Heterozygote
  • Hong Kong
  • Humans
  • Middle Aged
  • Pedigree
  • Point Mutation*

Substances

  • Factor VII