Iranian Journal of Medical Sciences

Document Type: Case Report(s)


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


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