Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome.

ABSTRACT:

Objective

To elucidate the genetic cause of a rare recessive ataxia presented by 2 siblings from a consanguineous Turkish family with a nonprogressive, congenital ataxia with mental retardation of unknown etiology.

Methods

Whole-exome sequencing was combined with homozygosity mapping, linkage, and expression analysis to identify candidate genes, confirmed by Sanger sequencing. Reverse transcription-PCR and immunoblotting were used to determine the functional consequences of the gene variant. A zebrafish model was developed using morpholino-mediated knockdown.

Results

We identified a homozygous mutation at the invariant +1 position (c.964+1G>A) in intron 9 of the CWF19L1 (complexed with cdc5 protein 19-like 1) gene. This mutation is absent in >6,500 European and Africa

SUBMITTER: Burns R 

PROVIDER: S-EPMC4276403 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature