Single synonymous mutation in factor IX alters protein properties and underlies haemophilia B.

ABSTRACT:

Background

Haemophilia B is caused by genetic aberrations in the F9 gene. The majority of these are non-synonymous mutations that alter the primary structure of blood coagulation factor IX (FIX). However, a synonymous mutation c.459G>A (Val107Val) was clinically reported to result in mild haemophilia B (FIX coagulant activity 15%-20% of normal). The F9 mRNA of these patients showed no skipping or retention of introns and/or change in mRNA levels, suggesting that mRNA integrity does not contribute to the origin of the disease in affected individuals. The aim of this study is to elucidate the molecular mechanisms that can explain disease manifestations in patients with this synonymous mutation.

Methods

We analyse the molecular mechanisms underlying the FIX defici

SUBMITTER: Simhadri VL 

PROVIDER: S-EPMC6192418 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature