A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia
| Autor: | Steve Bobis, Hala Abdalrahman Ahmed, Prashant Bavi, Latifa Al Sharif, Nada Abu Dhaim, Dania S. Khalil, Zainularifeen Abduljaleel, Jameela Shinwari, Amna Magrashi, Nada Al Tassan, Samaher AlAhmed, Saeed Bohlega |
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| Rok vydání: | 2011 |
| Předmět: |
Adult
Male Cerebellum Ataxia Adolescent Cerebellar Ataxia genetic structures Apraxias Genetic Linkage Mutation Missense Locus (genetics) Biology Ataxia Telangiectasia Consanguinity Mice Phosphatidylinositol 3-Kinases Young Adult Gene Order Genetics medicine Animals Class Ib Phosphatidylinositol 3-Kinase Humans Sibling Relations Missense mutation Oculomotor apraxia Gene Genetics (clinical) Homozygote Haplotype DNA Helicases Brain medicine.disease Magnetic Resonance Imaging Multifunctional Enzymes Pedigree Phenotype medicine.anatomical_structure Female Cerebellar atrophy medicine.symptom Hypoalbuminemia RNA Helicases |
| Zdroj: | Human Mutation. 33:351-354 |
| ISSN: | 1059-7794 |
| Popis: | 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. © 2011 Wiley Periodicals, Inc. |
| Databáze: | OpenAIRE |
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