Iria Beltrán Rodríguez, A. Arés Luque, Laura García-Talavera Casado
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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 with ataxia, hyperreflexia, ocular movement disorders and cerebellar atrophy. The homozygous variant in the ANO10 gene NP_060545.3:p.Asn114* is a 2-nucleotide deletion that would cause the introduction of a premature stop codon at the same position, that has not been previously described in the scientific literature related to disease and it perfectly explains our patient’s condition.