1例常染色体隐性遗传脊髓小脑共济失调1型的临床特点及基因分析

Clinical and genetic features of autosomal recessive spinocerebellar ataxia type 1:A case report

本研究对1例因SETX基因突变引起常染色体隐性遗传脊髓小脑共济失调1型(SCAR1)的患者进行了临床表型分析及基因检测。通过病史采集、神经系统查体、影像学检查、神经电生理检查及基因学分析,发现该患者9号染色体上的SETX基因存在复合杂合突变:c.5812C>T(p.Q1938X)和c.501_508del,这些突变位点分别位于第14外显子和第6外显子,且此前尚未在文献中报道。本研究首次发现这两个突变可引起SCAR1,为进一步理解SETX基因在SCAR1中的致病机制提供了新的线索,并可能为未来类似病例的诊断和治疗提供参考。

This study analyzes the clinical phenotype and genetic testing results of a patient with autosomal recessive spinocerebellar ataxia type 1(SCAR1)caused by SETX gene mutations.Through medical history collection,neurological examination,radiological examination,neural electrophysiological examination,and genetic analysis,compound heterozygous mutations were found in the SETX gene on chromosome 9,i.e.,c.5812C>T(p.Q1938X)and c.501_508del,and these mutation sites were located in exon 14 and exon 6,respectively,and had not been reported in the literature.This study discovers for the first time that these two mutations can cause SCAR1,providing new insights into the pathogenic mechanism of the SETX gene in SCAR1 and a reference for the diagnosis and treatment of similar cases in the future.