A novel hemizygous SACS mutation identified by whole exome sequencing and SNP array analysis in a Chinese ARSACS patient

作者：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.^*

来源：Journal of the Neurological Sciences, 2016, 362: 111-114.

DOI：10.1016/j.jns.2016.01.026

• Autosomal recessive spastic ataxia of
• Charlevoix-Saguenay (ARSACS)
• Inherited peripheral neuropathy (IPN)
• Nonsense mutation
• Deletion

The array of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) has expanded worldwide after the first description in the Charlevoix-Saguenay region of Quebec. 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 1.33 Mb 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.

• 出版日期2016-3-15
• 单位中南大学