A newly detected c.180  + 1G  & gt;  A variant causes a decrease of FGA transcription in patients with congenital hypo-dysfibrinogenemia

This study was designed to analyze the clinical phenotype and genetic mutations of a patient with congenital hypo-dysfibrinogenemia. Prothrombin time (PT), activated partial thromboplastin time (APTT), thrombin time (TT), andD-dimer were measured using an automated coagulation analyzer. Fibrinogen (Fg) was assessed by the Clauss and PT-Fg methods. Sanger sequencing was conducted to identify the mutations inFGA,FGB, andFGG genes. The proband and proband ’s mother, maternal uncle, and maternal grandfather exhibited a prolonged TT, decreased Clauss Fg and PT-Fg, and normal PT, APTT, andD-dimer without abnormalities in liver and kidney function. The ratio of Clauss Fg to PT-Fg was less than 0.7. A novelc.180 + 1G >  A mutation was detected inFGA gene by Sanger sequencing in the proband and proband ’s mother, maternal uncle, and maternal grandfather.FGA c.180  + 1G >  A variant leads to decreased transcription ofFGA. The patient was diagnosed with congenital hypo-dysfibrinogenemia presenting a novelc.180 + 1G >  A mutation inFGA, causing a decrease inFGA transcription in proband ’s peripheral blood.
Source: Journal of Hematopathology - Category: Pathology Source Type: research