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A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia

✍ Scribed by Nada Al Tassan; Dania Khalil; Jameela Shinwari; Latifa Al Sharif; Prashant Bavi; Zainularifeen Abduljaleel; Nada Abu Dhaim; Amna Magrashi; Steve Bobis; Hala Ahmed; Samaher AlAhmed; Saeed Bohlega

Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 244 KB
Volume: 33
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.21650

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✦ Synopsis

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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