Hereditary ataxia with a novel mutation in the Senataxin gene: A case report

Moghanloo, E. and Morovvati, Z. and Seifi, M. and Minoochehr, F. and Morovvati, S. and Teimourian, S. (2019) Hereditary ataxia with a novel mutation in the Senataxin gene: A case report. Iranian Journal of Medical Sciences, 44 (3). pp. 262-264.

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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 are 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. © 2019, Shiraz University of Medical Sciences. All rights reserved.

Item Type: Article
Additional Information: cited By 0
Uncontrolled Keywords: DNA; excitatory amino acid transporter 1; leucine; messenger RNA; phenylalanine; potassium channel Kv1.1; synaptobrevin 1, adult; apraxia; APTX gene; Article; ataxic gait; balance disorder; body regions; CACNA1A gene; CACNB4 gene; case report; cerebellum atrophy; clinical article; DNA determination; DNA sequence; dysarthria; eye movement; gene; gene mutation; genetic analysis; head; hereditary ataxia; heterozygote; human; Iran; KCNA1 gene; male; mutational analysis; neurologic examination; next generation sequencing; nuclear magnetic resonance imaging; patient referral; pedigree; PNKP gene; polymerase chain reaction; SETX gene; SLC1A3 gene; tremor; VAMP1 gene; young adult
Subjects: Biochemistry, Genetics and Molecular Biology
Divisions: Faculty of Medicine > Basic Sciences > Applied Cell Sciences
Depositing User: ART . editor
Date Deposited: 30 Dec 2019 11:30
Last Modified: 30 Dec 2019 11:30
URI: http://eprints.kaums.ac.ir/id/eprint/4585

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