부산대학교 도서관

Autosomal recessive cerebellar ataxia is heterogeneous inherited neurodegenerative disorders with more than 70 involved genes. The development of next generation sequencing opens a new window in rapid diagnosis of such heterogeneous condition in medical genetics laboratories. Here, we present ADCK3; del. CD (229–230) mutation in an Iranian consanguineous family with three cerebellar ataxic boys using whole exome sequencing. The mutation was predicted pathogenic and all the affected individuals were homozygous for the variant. Although, the ADCK3 was previously reported as one of the master genes of ARSC, our mutation was novel as has been not previously reported in dbSNP or literature. • Here, we present a novel ADCK3 gene in an Iranian family suffering from autosomal recessive spinocerebellar ataxia by means of whole exome sequencing. • The nucleotide change was predicted pathogenic, occurred in a conserved domain of ADCK3 protein and was not previously reported in dbSNP, 1000G or literature. • Variety of ADCK3 mutations has been previously reported in ataxia patients besides our finding indicates the importance of this gene in genetic consoling of inherited ataxia. • Addionally, our finding shows how such heterogeneous condition like ataxia beneficiate from the speed of whole exome sequencing. [ABSTRACT FROM AUTHOR]