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

We report two novel factor VII (FVII) gene mutations in a Chinese family wi th FVII deficiency. The proband, a 55-year-old woman, was incidentally foun d to have right shoulder arthritis consistent with chronic haemophilic arth ropathy PW 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 mutat ion (T10902-->G; Cys329-->Gly) that disrupted a Cys310/Cys329 disulphide bo nd. 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 ty pe 2 mutation phenotype consistent with a missense mutation. These are the first reported FVII gene mutations in the Chinese people.