title: A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia.
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.
authors: Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia. naltassan@kfshrc.edu.sa
authors: Nada
authors: N
authors: Al Tassan
authors: Dania
authors: D
authors: Khalil
authors: Jameela
authors: J
authors: Shinwari
authors: Latifa
authors: L
authors: Al Sharif
authors: Prashant
authors: P
authors: Bavi
authors: Zainularifeen
authors: Z
authors: Abduljaleel
authors: Nada
authors: N
authors: Abu Dhaim
authors: Amna
authors: A
authors: Magrashi
authors: Steve
authors: S
authors: Bobis
authors: Hala
authors: H
authors: Ahmed
authors: Samaher
authors: S
authors: Alahmed
authors: Saeed
authors: S
authors: Bohlega
mesh_terms: D000293:Adolescent; D000328:Adult; D000818:Animals; D001072:Apraxias / Q000175:diagnosis / Q000235:genetics*; D001259:Ataxia / Q000175:diagnosis / Q000235:genetics*; D001260:Ataxia Telangiectasia / Q000175:diagnosis / Q000235:genetics*; D001921:Brain / Q000473:pathology; D002524:Cerebellar Ataxia / Q000151:congenital; D058544:Class Ib Phosphatidylinositol 3-Kinase / Q000235:genetics*; D003241:Consanguinity; D004265:DNA Helicases; D005260:Female; D023061:Gene Order; D008040:Genetic Linkage; D006720:Homozygote; D006801:Humans; D034141:Hypoalbuminemia / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D051379:Mice; D064251:Multifunctional Enzymes; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics*; D020365:RNA Helicases / Q000235:genetics; D012801:Sibling Relations; D055815:Young Adult
chemical_list: D058544:Class Ib Phosphatidylinositol 3-Kinase; D004265:DNA Helicases; D064251:Multifunctional Enzymes; D019869:Phosphatidylinositol 3-Kinases; D020365:RNA Helicases; C484368:SETX protein, human