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SACS基因复合杂合突变导致Charlevoix-Saguenay型痉挛性共济失调一家系两例CSCD
引用本文:李世容,陈永平,袁晓琴,魏倩倩,欧汝威,顾孝静,商慧芳.SACS基因复合杂合突变导致Charlevoix-Saguenay型痉挛性共济失调一家系两例CSCD[J].中华医学遗传学杂志,2018(4):507-510.
作者姓名:李世容  陈永平  袁晓琴  魏倩倩  欧汝威  顾孝静  商慧芳
作者单位:1.四川大学华西医院神经内科610041;2.贵州省人民医院神经内科550002;
基金项目:贵阳市科技计划项目([20151001]71);贵州省科技计划合作项目([2015]7150);贵州省科技计划项目([2017]5631);国家重点研发计划精准医学研究重点专项(2016YFC0901504)
摘    要:目的对1个常染色体隐性遗传痉挛性共济失调Charlevoix-Saguenay型(autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS)家系进行SACS基因突变分析,探讨其遗传学病因。方法应用目标区捕获高通量靶向测序对SACS基因进行突变筛查,用Sanger测序对突变位点进行验证。结果测序结果显示先证者和弟弟存在SACS基因C.13085T〉G(P.14362R)和C.5236dupA(P.T1746fs)复合杂合突变,父亲携带SACS基因c.5236dupA(P.T1746fs)杂合突变,母亲携带SACS基因C.13085T〉G(p.14362R)杂合突变,因此患者的C.5236dupA(P.T1746fs)和C.13085T〉G(P.14362R)突变分别来自父母。经检索人类基因突变数据库这两个变异均为未报道过的新突变,根据美国医学遗传学及基因组学会遗传变异解读指南,提示均为可能的致病性突变。结论C.5236dupA(P.T1746fs)和C.13085T〉G(P.14362R)突变为该ARSACS家系患者的遗传学病因,新突变的检出丰富了SACS基因突变谱。

关 键 词:Charlevoix-Saguenay型痉挛性共济失调  SACS基因  基因突变

Identification of compound heterozygous mutations of SACS gene in two patients from a pedigree with spastic ataxia of Charlevoix-SaguenayCSCD
Affiliation:1.Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan610041;2.Department of Neurology, Guizhou Provincial People's Hospital, Guiyang, Guizhou550002;
Abstract:Objective: To detect potential mutations of the spastic ataxia of Charlevoix-Saguenay (.SACS) gene in a pedigree affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Methods: Genomic DNA was extracted from peripheral blood samples of the proband and her family members. All exons and flanking sequences of the SACS gene were analyzed by high-throughput sequencing. Suspected mutations were verified with Sanger sequencing. Results: Next generation sequencing revealed novel compound heterozygous mutations of the SACS gene, namely c. 13085T>G (p. I4362R) and c. 5236dupA (p. T1746fs), in the proband, which were respectively derived from her parents. The mutations were confirmed by Sanger sequencing. Conclusion: The c. 5236dupA (p. T1746fs) and c. 13085 T>G (p. I4362R) mutations of the SACS gene probably underlie the ocular symptoms and hearing loss in the proband. © 2018 MeDitorial Ltd. All rights reserved.
Keywords:Gene mutation  SACS gene  Spastic ataxia of Charlevoix-Saguenay
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