Repository of Research and Investigative Information

Repository of Research and Investigative Information

Baqiyatallah University of Medical Sciences

Hereditary Ataxia with a novel Mutation in the Senataxin Gene: A case Report

(2019) Hereditary Ataxia with a novel Mutation in the Senataxin Gene: A case Report. Iranian Journal of Medical Sciences. pp. 262-264. ISSN 0253-0716

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Abstract

Hereditary ataxias (HA) are a group of inherited neurological disorders caused by changes in genes. At least 115 different mutations in the senataxin (SETX) gene causing ataxia have been identified. There arc no reports of any SETX gene mutation among the Iranian population. Here we report on two cases with homozygous and heterozygous mutations in which one patient was affected by HA with oculomotor apraxia type 2, and the other was a carrier of the disorder. In 2016, the affected patient was referred to the Biogene Medical and Genetic Laboratory (Tehran, Iran) suffering from imbalance and tremor of both head and body. The coding regions of 18 genes, including the SETX gene, were screened. The target regions were captured using the NimbleGen chip followed by next-generation sequencing (NGS) technology on the Illumina Hiseq2500 platform. NGS, a DNA sequencing technology, has greatly increased the ability to identify new causes of ataxia; a useful tool for the prevention of primary manifestations and treatment of affected patients. In the present study, a novel mutation in the SETX gene has been identified.

Item Type: Article
Keywords: Spinocerebellar degenerations Mutation SETX gene Nervous system diseases Ataxia General & Internal Medicine
Divisions:
Page Range: pp. 262-264
Journal or Publication Title: Iranian Journal of Medical Sciences
Journal Index: ISI
Volume: 44
Number: 3
ISSN: 0253-0716
Depositing User: مهندس مهدی شریفی
URI: http://eprints.bmsu.ac.ir/id/eprint/2595

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