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

被引:0
作者
Moghanloo, Ehsan [1 ,2 ]
Morovvati, Ziba [3 ]
Seifi, Maghsoud [4 ]
Minoochehr, Fatemeh [5 ]
Morovvati, Saeid [5 ]
Teimourian, Shahram [6 ]
机构
[1] Kashan Univ Med Sci, Dept Microbiol & Immunol, Fac Med, Kashan, Iran
[2] Univ Tehran Med Sci, Canc Inst Iran, Canc Res Ctr, Tehran, Iran
[3] Biogene Med & Genet Lab, Tehran, Iran
[4] Bu Ali Sina Univ, Dept Biotechnol, Hamadan, Iran
[5] Baqiyatallah Univ Med Sci, Human Genet Res Ctr, Tehran, Iran
[6] Iran Univ Med Sci, Dept Med Genet, Crossroads Shahid Hemmat & Shahid Chamran Highway, Tehran, Iran
关键词
Spinocerebellar degenerations; Mutation; SETX gene; Nervous system diseases; Ataxia;
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
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页码:262 / 264
页数:3
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