Tehran University of Medical Sciences

Science Communicator Platform

Stay connected! Follow us on X network (Twitter):
Share By
Hereditary Ataxia With a Novel Mutation in the Senataxin Gene: A Case Report Publisher Pubmed



Moghanloo E1, 2 ; Morovvati Z3 ; Seifi M4 ; Minoochehr F5 ; Morovvati S5 ; Teimourian S6
Authors

Source: Iranian Journal of Medical Sciences Published:2019


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.
Related Docs
View other Related Docs
1. Genetic Risk Variants for Class Switching Recombination Defects in Ataxia-Telangiectasia Patients, Journal of Clinical Immunology (2022)
2. Novel Homozygous Frameshift Variant in the Atcay Gene in an Iranian Patient With Cayman Cerebellar Ataxia; Expanding the Neuroimaging and Clinical Features: A Case Report, BMC Medical Genomics (2023)
3. Identification of Novel Mutations in Tpk1 and Slc19a3 Genes in Families Exhibiting Thiamine Metabolism Dysfunction Syndrome, Heliyon (2024)
Experts (# of related papers)
View all Related Experts
Mahmoudreza Ashrafi (7)
Ali Reza Tavasoli (4)
Other Related Docs
4. Early-Onset Friedreich’S Ataxia With Oculomotor Apraxia, Acta Medica Iranica (2017)
5. Clinical Characterization and Mutation Analysis of 13 Iranian Ataxia Telangiectasia Patients: Introducing Two Novel Mutations, Iranian journal of allergy, asthma, and immunology (2025)
6. Dystonia in Ataxia Telangiectasia: A Case Report With Novel Mutations, Oman Medical Journal (2020)
7. The Genetic Basis of Early-Onset Hereditary Ataxia in Iran: Results of a National Registry of a Heterogeneous Population, Human Genomics (2024)
8. The Spectrum of Atm Gene Mutations in Iranian Patients With Ataxia-Telangiectasia, Pediatric Allergy and Immunology (2021)
9. Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: An Iranian Case Series Expanding the Genetic and Neuroimaging Spectra, Cerebellum (2023)
10. Identification of Two Novel Mutations in the Atm Gene From Patients With Ataxia-Telangiectasia by Whole Exome Sequencing, Current Genomics (2019)
11. Once in a Blue Moon, a Very Rare Coexistence of Glutaric Acidemia Type I and Mucopolysaccharidosis Type Iiib in a Patient, Iranian Biomedical Journal (2020)
12. Diagnostic Whole Exome Sequencing in Presumably Autosomal Recessive Inherited Retinal Dystrophies in an Iranian Population, Scientific Reports (2025)
13. Epilepsia Partialis Continua a Clinical Feature of a Missense Variant in the Adck3 Gene and Poor Response to Therapy, Journal of Molecular Neuroscience (2022)
14. Expanding Phenotype Heterogeneity of Nars2 by Presenting Subdural Hematoma and Parenchymal Hemorrhage, Journal of Clinical Laboratory Analysis (2023)
15. Effect of Class Switch Recombination Defect on the Phenotype of Ataxia-Telangiectasia Patients, Immunological Investigations (2021)
16. Identification of a Novel Truncating Variant in Ahi1 Gene and a Brief Review on Mutations Spectrum, Molecular Biology Reports (2021)
17. Unveiling a Novel Thoc2 Mutation’S Role in X-Linked Intellectual Disability, International Journal of Biomedicine (2024)
18. Joubert Syndrome Caused by a Tmem67 Mutation: Genotype-Phenotype Analysis, Neurology Asia (2024)
19. Ataxia Telangiectasia With Giant Suprasellar Arachnoid Cyst - a Case Report and a Brief Review, Iranian Journal of Child Neurology (2025)
20. Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature, Frontiers in Immunology (2022)