摘要目的 对1例常染色体隐性遗传性痉挛性共济失调(autosomal recessive spastic ataxia of Charlevoix-Saguenay,ARSACS)患者及其家系成员进行基因突变分析.方法 应用全外显子测序技术对先证者进行致病突变筛查,结合表型资料,确定候选基因的致病位点,用Sanger测序对先证者及其家系成员进行验证.结果 先证者携带SACS基因c.3665_3675delGTGCTGTCTTA(p.S1222fs)纯合突变,其父母均为杂合突变的携带者.结论 发现了一个SACS基因的新的致病突变,为ARSACS的病因诊断和产前诊断提供了依据.

abstractsObjective To carry out mutation analysis for a Chinese family affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).Methods Whole exome sequencing (WES) was used to screen potential mutations within genomic DNA extracted from the proband.Suspected mutation was validated by combining clinical data and results of Sanger sequencing.Results A homozygous deletional mutation c.3665_3675delGTGCTGTCTTA (p.S1222fs) was found in the proband,for which her parents were both heterozygous carriers.Conclusion WES is capable of detecting mutation underlying this disorder and facilitating genetic counseling and prenatal diagnosis for the affected family.A novel pathogenic mutation of the SACS gene was discovered.