Novel Mutation in FRDA Gene among Iranian Patients with Friedreich's Ataxia

Introduction: Friedrich Ataxia’s diagnosis is typically based on clinical symptoms and extended GAA repeats. However, in some rare cases the disease is caused as a result of the mutation in the exons of the FRDA (Friedreich's ataxia) gene. The current study aimed to examine point mutations in exon 1 of the FRDA gene with the goal of finding a better way for diagnosing people suspected of this disease. Materials and Methods: In this study, 30 suspected patients of Friedrich Ataxia underwent PCR molecular test. Subsequently, sequencing and long PCR were utilized to assess exon 1 in five patients with extended repeats. Results: In total, 25 participants who had extended repeats were diagnosed with Friedrich Ataxia. In one out of the five patients, the nucleotide change from G to T was observed in the nucleotide number 815324. Conclusion: Since the change had a heterozygous nature, it did not cause any deficiency in Frataxin protein. Given that family marriages are prevalent in Iran, there is a possibility of homozygosity with this mutation or other mutations. It is thus recommended that gene sequencing should be performed for individuals with suspected Friedrich Ataxia.