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Case Reports
. 2012 Feb;33(2):351-4.
doi: 10.1002/humu.21650. Epub 2011 Dec 8.

A Missense Mutation in PIK3R5 Gene in a Family With Ataxia and Oculomotor Apraxia

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Case Reports

A Missense Mutation in PIK3R5 Gene in a Family With Ataxia and Oculomotor Apraxia

Nada Al Tassan et al. Hum Mutat. .

Abstract

Autosomal recessive ataxias are heterogeneous group of disorders characterized by cerebellar atrophy and peripheral sensorimotor neuropathy. Molecular characterization of this group of disorders identified a number of genes contributing to these overlapping phenotypes. Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive form of ataxia caused by mutations in the SETX gene. We report on a consanguineous family with autosomal recessive inheritance and clinical characteristics of AOA2, and no mutations in the SETX gene. We mapped the AOA locus in this family to chromosome 17p12-p13. Sequencing of all genes in the refined region identified a homozygous missense mutation in PIK3R5 that was absent in 477 normal controls. Our characterization of the PIK3R5 protein and findings suggest that it may play a role in the development of the cerebellum and vermis.

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