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.