ANO10基因的纯合变异p.asn115*:脊髓小脑性共济失调的新发现病因

Iria Beltrán Rodríguez, A. Arés Luque, Laura García-Talavera Casado
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引用次数: 0

摘要

脊髓小脑性共济失调隐性10型是一种与ANO10基因突变相关的遗传形式。患者表现为共济失调、反射亢进、眼运动障碍和小脑萎缩。ANO10基因的纯合变异体NP_060545.3:p。Asn114*是一个2个核苷酸的缺失,会导致在相同位置引入一个过早的终止密码子,这在之前与疾病相关的科学文献中没有描述过,它完美地解释了我们患者的病情。
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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.
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