Identification and characterization of novel mutations implicated in congenital fibrinogen disorders.

ABSTRACT:

Introduction

Fibrinogen is a complex molecule comprised of two sets of Aα, Bβ, and γ chains. Fibrinogen deficiencies can lead to the development of bleeding or thromboembolic events. The objective of this study was to perform DNA sequence analysis of patients with clinical fibrinogen abnormalities, and to perform genotype-phenotype correlations.

Materials and methods

DNA from 31 patients was sequenced to evaluate disease-causing mutations in the three fibrinogen genes: FGA,FGB, and FGG. Clinical data were extracted from medical records or from consultation with referring hematologists. Fibrinogen antigen and functional (Clauss method) assays, as well as reptilase time (RT) and thrombin time (TT) were obtained for each patient. Molecular modeling was used

SUBMITTER: Smith N 

PROVIDER: S-EPMC6178649 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature