Homozygosis variant p.asn115* in the ANO10 gene: a new discovered cause of spinocerebellar Ataxia

The spinocerebellar ataxia recessive type 10 is a genetic form associated with ANO10 gene mutations. Affected individuals present ataxia, hyperreflexia, ocular movement disorders and cerebellar atrophy. homozygous variant in the NP_060545.3:p.Asn114* 2-nucleotide deletion that would cause introduction of premature stop codon at same position, has not been previously described scientific literature related to disease it perfectly explains our patient’s condition.