MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43).

ABSTRACT:

Objective

To identify the causative gene mutation in a 5-generation Belgian family with dominantly inherited spinocerebellar ataxia and polyneuropathy, in which known genetic etiologies had been excluded.

Methods

We collected DNA samples of 28 family members, including 7 living affected individuals, whose clinical records were reviewed by a neurologist experienced in ataxia. We combined linkage data of 21 family members with whole exome sequencing in 2 affected individuals to identify shared heterozygous variants mapping to potentially linked regions. Variants were screened for rarity and for predicted damaging effect. A candidate mutation was confirmed by Sanger sequencing and tested for cosegregation with the disease.

Results

Affected individuals presented with late

SUBMITTER: Depondt C 

PROVIDER: S-EPMC4991603 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature