Clinical Phenotype and Genetic Analysis of Twins With Congenital Coagulation Factor V Deficiency.

ABSTRACT:

Objective

The aim was to investigate the clinical characteristics and molecular pathogenic mechanism of twins with congenital factor V (FV) deficiency.

Methods

We comprehensively analyzed the clinical manifestations and laboratory test results of a set of twins and their parents and performed point mutation analysis with direct high-throughput exon sequencing.

Results

The prothrombin time and activated partial thromboplastin time were prolonged for both probands, and the FV activity levels were 13.0% and 9.8%. Next-generation sequencing showed that the affected individuals harbored a paternal c.5113A>C (p.S1705R) and a maternal c.4949C>T (p.A1650V) heterozygous variants in the FV gene, which conformed to an autosomal recessive inheritance pattern. This is the first re

SUBMITTER: Wei Y 

PROVIDER: S-EPMC8876379 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature