Hereditary Ataxia with a Novel Mutation in the Senataxin Gene: A Case Report

Hereditary ataxias (HA) are a group of inherited neurological disorders caused by changes in genes. At least 115 different mutations in the ( ) gene causing ataxia have been identified. There are no reports of any gene mutation among the Iranian population. Here we report on two cases with homozygou...

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Bibliographic Details
Published in:Iranian journal of medical sciences 2019-05, Vol.44 (3), p.262-264
Main Authors: Moghanloo, Ehsan, Morovvati, Ziba, Seifi, Maghsoud, Minoochehr, Fatemeh, Morovvati, Saeid, Teimourian, Shahram
Format: Article
Language:English
Subjects:
Anopheles
Apraxia
Ataxia
Case Reports
DNA
DNA sequencing
Gene mutation
Genes
Genetic aspects
Medical research
Mutation
Nervous system diseases
Novels
SETX gene
Spinocerebellar degenerations
Technology
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Summary:Hereditary ataxias (HA) are a group of inherited neurological disorders caused by changes in genes. At least 115 different mutations in the ( ) gene causing ataxia have been identified. There are no reports of any 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 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 gene has been identified.
ISSN:0253-0716
1735-3688
DOI:10.30476/IJMS.2019.44983