Adult phenotype and further phenotypic variability in SRD5A3-CDG.

ABSTRACT:

Background

SRD5A3 is responsible for SRD5A3-CDG, a type of congenital disorder of glycosylation, and mutations have been reported in 15 children. All the mutations are recessive and truncating.

Case presentation

We present 2 brothers at the age of 38 and 40 years with an initial diagnosis of cerebellar ataxia. We found the candidate disease loci via linkage analysis using data from single nucleotide polymorphism genome scans and homozygous truncating mutation SRD5A3 p.W19X, which was previously reported in 3 unrelated children, by exome sequencing.Clinical investigations included physical and ocular examinations and blood tests. Severe ocular involvement with retinal bone spicule pigmentation and optic atrophy are the most prominent disabling clinical features of the disease

SUBMITTER: Kara B 

PROVIDER: S-EPMC3898029 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature