Identification of novel mutations in patients with fibrinogen disorders and genotype/phenotype correlations.

ABSTRACT:

Background

Congenital fibrinogen disorders are caused by variants occurring within the fibrinogen gene cluster. We describe ten subjects with disease-causative variants, adding information on such disorders.

Materials and methods

Ten subjects were referred to our Centre because of likely hypo/dysfibrinogenaemia. We evaluated the function and quantity of fibrinogen, using Clauss and immunoreactive assays, and performed genetic investigations by direct sequencing of alpha, beta and gamma chain-encoding genes. Mutations were analysed using SIFT and Polyphen-2 algorithms.

Results

We identified one afibrinogenaemic patient (alpha p.Arg178* homozygote) with bleeding/thrombotic events, three heterozygous patients with hypo/dysfibrinogenaemia (gamma p.Thr47ILeu combined with

SUBMITTER: Chinni E 

PROVIDER: S-EPMC6596374 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature