Motor protein mutations cause a new form of hereditary spastic paraplegia.

ABSTRACT:

Objective

To identify a novel disease gene in 2 families with autosomal recessive hereditary spastic paraplegia (HSP).

Methods

We used whole-exome sequencing to identify the underlying genetic disease cause in 2 families with apparently autosomal recessive spastic paraplegia. Endogenous expression as well as subcellular localization of wild-type and mutant protein were studied to support the pathogenicity of the identified mutations.

Results

In 2 families, we identified compound heterozygous or homozygous mutations in the kinesin gene KIF1C to cause hereditary spastic paraplegia type 58 (SPG58). SPG58 can be complicated by cervical dystonia and cerebellar ataxia. The same mutations in a heterozygous state result in a mild or subclinical phenotype. KIF1C mutations in S

SUBMITTER: Caballero Oteyza A 

PROVIDER: S-EPMC4105256 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature