Fabry disease due to D313Y and novel GLA mutations.

ABSTRACT:

Objectives

Our aim is to report four novel α-gal A gene (GLA) mutations resulting in Fabry disease (FD) and provide evidence of pathogenicity of the D313Y mutation regarding which contradictory data have been presented in the literature.

Setting and participants

Twenty-five family members of nine unrelated patients with definite FD diagnosis, 10 clinically suspected cases and 18 members of their families were included in this polycentric cohort study.

Primary and secondary outcome measures

Genotyping and measurement of lyso-Gb₃ was performed in all individuals. The α-Gal A activity was measured in all men as well as plasma and urine Gb₃ concentration in selected cases. Optical and electron microscopy was performed in kidney biopsies of sel

SUBMITTER: Koulousios K 

PROVIDER: S-EPMC5640077 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature