A novel fibrinogen γ-chain frameshift mutation, p. Cys365Phefs*41, causing hypofibrinogenemia with bleeding phenotype in a Chinese family.

ABSTRACT:

Background

Congenital hypofibrinogenemia is a rare bleeding disease that is classified as the quantitative deficient type. In the present study, investigated the relationship between the genotype and phenotype in a family with hypofibrinogenemia.

Methods

The proband was aware of a predisposition to bleeding. Functional analysis was performed for her all family members, including coagulation function tests, thrombus molecular markers, thromboelastography, scanning electron microscopy, DNA sequencing, and high-performance liquid chromatography-mass spectrometry (HPLC-MS). Pathogenicity analysis and protein modeling of mutant amino acids were also performed.

Results

A novel heterozygous mutation in c.1094delG was detected in FGG exon 8, which resulted in p. Cys365Phefs*4

SUBMITTER: Zhou W 

PROVIDER: S-EPMC8422118 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature