Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome.

ABSTRACT:

Background

The etiology of many cases of childhood-onset chorea remains undetermined, although advances in genomics are revealing both new disease-associated genes and variant phenotypes associated with known genes.

Methods

We report a Saudi family with a neurodegenerative course dominated by progressive chorea and dementia in whom we performed homozygosity mapping and whole exome sequencing.

Results

We identified a homozygous missense mutation in GM2A within a prominent block of homozygosity. This mutation is predicted to impair protein function.

Discussion

Although discovered more than two decades ago, to date, only five patients with this rare form of GM2 gangliosidosis have been reported. The phenotype of previously described GM2A patients has been typified

SUBMITTER: Salih MA 

PROVIDER: S-EPMC4502426 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature