在中国一名常染色体隐性遗传性痉挛性截瘫伴 Charcot-Marie-Tooth 综合征（ARSACS）患者中，通过全外显子组测序和单核苷酸多态性（SNP）阵列分析鉴定出一种新的半合子 SACS 突变。
A novel hemizygous SACS mutation identified by whole exome sequencing and SNP array analysis in a Chinese ARSACS patient.
作者信息
Liu L, Li X B, Zi X H, Shen L, Hu Zh M, Huang Sh X, Yu D L, Li H B, Xia K, Tang B S, Zhang R X
机构信息
Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha 410013, Hunan Province, China.
Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, Hunan Province, China.
出版信息
J Neurol Sci. 2016 Mar 15;362:111-4. doi: 10.1016/j.jns.2016.01.026. Epub 2016 Jan 18.
The array of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) has expanded worldwide after the first description in the Charlevoix-Saguenay region of Québec. Here, we report a Chinese ARSACS patient presenting progressive peripheral neuropathy (CMTNS2=15) with horizontal gaze nystagmus and mild spastic gait. Genetic studies including whole exome sequencing (WES), Sanger sequencing and single nucleotide polymorphism (SNP) array analysis revealed a novel hemizygous nonsense mutation (c.11803C>T, p.Gln3935X) of SACS and a 1.33Mb deletion involved in SACS on chromosome 13q12.12 in the patient. Our findings highlight the necessity of SACS mutation screening in the gene panel of inherited peripheral neuropathies, and stress the need of testing copy number variation (CNV) in SACS mutation screening.
在魁北克省沙勒沃伊-萨格奈地区首次描述常染色体隐性遗传性沙勒沃伊-萨格奈痉挛性共济失调（ARSACS）之后，其病例在全球范围内有所增加。在此，我们报告一名中国ARSACS患者，该患者表现为进行性周围神经病变（CMTNS2=15），伴有水平凝视性眼球震颤和轻度痉挛性步态。包括全外显子组测序（WES）、桑格测序和单核苷酸多态性（SNP）阵列分析在内的基因研究显示，该患者的SACS基因存在一种新的半合子无义突变（c.11803C>T，p.Gln3935X），并且在13号染色体13q12.12上存在一个与SACS基因相关的1.33Mb缺失。我们的研究结果凸显了在遗传性周围神经病变基因检测中进行SACS基因突变筛查的必要性，并强调在SACS基因突变筛查中检测拷贝数变异（CNV）的必要性。
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