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

作者：Al Tassan Nada^*; Khalil Dania; Shinwari Jameela; Al Sharif Latifa; Bavi Prashant; Abduljaleel Zainularifeen; Abu Dhaim Nada; Magrashi Amna; Bobis Steve; Ahmed Hala; AlAhmed Samaher; Bohlega Saeed

来源：Human Mutation, 2012, 33(2): 351-354.

DOI：10.1002/humu.21650

• ataxia with oculomotor apraxia type 2
• haplotype
• linkage
• homozygosity

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. Hum Mutat 33:351-354, 2012.

• 出版日期2012-2