Recurrent mutations and genotype-phenotype correlations in XXXX in Korea.

@entity1 @entity72058 @entity72056 @entity72052 @entity5630 @entity3459 @entity10133 @entity72053 @entity72055 @entity72057 @entity55247 @entity72054
@entity10133 (FVII) deficiency is a rare @entity3459 caused by mutations in the F7 gene. The aims of this study were to characterize the molecular defect of F7 in Korean @entity1 with @entity5630 and to find genotype-phenotype correlations. Study individuals consisted of 14 unrelated Korean @entity1 with @entity5630 with residual FVII activities ranging from 1 to 34%. To identify causative mutations, we performed PCR amplification and direct sequencing of all exons and flanking sequences of F7 gene. In all 14 @entity1 , one (N = 4) or two (N = 10) mutant alleles were identified. A total of 11 unique mutations were detected, of which four were novel ( @entity72052 , @entity72053 , @entity72054 , and @entity72055 ). Four recurrent mutations were observed in 86% of @entity1 (12 of 14) ( @entity72056 , @entity72057 , @entity72058 , and @entity55247 ) and accounted for 71% of all mutant alleles (17 of 24). The residual FVII activity was more than 5% in all six asymptomatic @entity1 (21%, range 6-34%), whereas it was 5% or less in all eight symptomatic @entity1 (2%, range 1-5%). In addition, the mean residual FVII activity in four @entity1 with a single mutant allele was 23.6% (range 3-34%), which was significantly higher than that in 10 @entity1 with two mutant alleles that was 4.6% (range 1-19%) (P = 0.023). In summary, the data from this study on the largest number of @entity5630 in Korea showed recurrent mutations in this population and suggested genotype-phenotype correlations.
