A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

作者：Zeng, Hui; Tang, Jian-Guang; Yang, Yi-Feng; Tan, Zhi-Ping^*; Tan, Jie-Qiong

来源：Cytogenetic and Genome Research, 2017, 152(1): 16-21.

DOI：10.1159/000477428

• ARSACS
• Consanguineous family
• SACS
• Spastic ataxia
• Whole-exome sequencing

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a hereditary neurological disorder mostly manifested with a classical triad: progressive early-onset cerebellar ataxia, lower limb pyramidal signs, and peripheral neuropathy. We employed whole-exome sequencing and bioinformatics to identify the genetic cause in an ARSACS patient from a consanguineous family. Based on whole-exome sequences of the patient and her healthy parents, a novel homozygous deletion variant (NM_ 014363: c. 9495_9508del; p.F3166Tfs*9) in the SACS gene was identified in the patient. This frameshift mutation is predicted to generate a truncated sacsin protein, which results in the loss of the C-terminal 1,406 amino acids. Our study provides a potential genetic diagnosis for the patient and expands the spectrum of SACS mutations.

• 出版日期2017-8
• 单位中南大学