Iranian Journal of Medical Sciences
Iranian Journal of Medical Sciences

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

Document Type : Case Report(s)

Authors

Ehsan Moghanloo 1
Ziba Morovvati 2
Maghsoud Seifi 3
Fatemeh Minoochehr 4
Saeid Morovvati 4
Shahram Teimourian 5

1 Department 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;

2 Biogene Medical and Genetic Laboratory, Tehran, Iran

3 Department of Biotechnology, Bu-Ali sina University, Hamedan, Iran

4 Human Genetics Research Center, Baqiyatallah University of Medical Sciences, Tehran, Iran

5 Department of Medical Genetics, Iran University of Medical Sciences, Tehran, Iran

https://doi.org/10.30476/ijms.2019.44983
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

Keywords

Spinocerebellar degenerations
Mutation
SETX gene
Nervous system diseases
Ataxia

  • Received 10 June 2018
  • Revised 22 July 2019
  • Accepted 12 June 2019

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