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Moghanloo, Ehsan, Morovvati, Ziba, Seifi, Maghsoud, Minoochehr, Fatemeh, Morovvati, Saeid, Teimourian, Shahram. (1398). Hereditary Ataxia with a Novel Mutation in the Senataxin Gene: A Case Report. سامانه مدیریت نشریات علمی, 44(3), 262-264. doi: 10.30476/ijms.2019.44983
Ehsan Moghanloo; Ziba Morovvati; Maghsoud Seifi; Fatemeh Minoochehr; Saeid Morovvati; Shahram Teimourian. "Hereditary Ataxia with a Novel Mutation in the Senataxin Gene: A Case Report". سامانه مدیریت نشریات علمی, 44, 3, 1398, 262-264. doi: 10.30476/ijms.2019.44983
Moghanloo, Ehsan, Morovvati, Ziba, Seifi, Maghsoud, Minoochehr, Fatemeh, Morovvati, Saeid, Teimourian, Shahram. (1398). 'Hereditary Ataxia with a Novel Mutation in the Senataxin Gene: A Case Report', سامانه مدیریت نشریات علمی, 44(3), pp. 262-264. doi: 10.30476/ijms.2019.44983
Moghanloo, Ehsan, Morovvati, Ziba, Seifi, Maghsoud, Minoochehr, Fatemeh, Morovvati, Saeid, Teimourian, Shahram. Hereditary Ataxia with a Novel Mutation in the Senataxin Gene: A Case Report. سامانه مدیریت نشریات علمی, 1398; 44(3): 262-264. doi: 10.30476/ijms.2019.44983

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

Iranian Journal of Medical Sciences
مقاله 11، دوره 44، شماره 3، مرداد 2019، صفحه 262-264    اصل مقاله (662.1 K)
نوع مقاله: Case Report(s)
شناسه دیجیتال (DOI): 10.30476/ijms.2019.44983
نویسندگان
Ehsan Moghanloo1؛ Ziba Morovvati2؛ Maghsoud Seifi3؛ Fatemeh Minoochehr4؛ Saeid Morovvati4؛ Shahram Teimourian* 5
1Department of Microbiology and Immunology, Faculty of Medicine, Kashan University of Medical Sciences, Kashan, Iran; and Cancer Research Center, Cancer Institute of Iran, Tehran University of Medical Science, Tehran, Iran;
2Biogene Medical and Genetic Laboratory, Tehran, Iran
3Department of Biotechnology, Bu-Ali sina University, Hamedan, Iran
4Human Genetics Research Center, Baqiyatallah University of Medical Sciences, Tehran, Iran
5Department of Medical Genetics, Iran University of Medical Sciences, Tehran, Iran
چکیده
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
کلیدواژه‌ها
Spinocerebellar degenerations؛ Mutation؛ SETX gene؛ Nervous system diseases؛ Ataxia
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