Analysis of SACS mutation in a family affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
10.3760/cma.j.issn.1003-9406.2019.03.006
- VernacularTitle:一个常染色体隐性遗传性痉挛性共济失调家系SACS基因的突变分析
- Author:
Qian ZHANG
1
;
Huanzheng LI
;
Chong CHEN
;
Zhaotang LUAN
;
Xueqin XU
;
Shaohua TANG
Author Information
1. School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang 325000, China. tsh006@163.com.
- Publication Type:Case Reports
- MeSH:
Female;
Genes, Recessive;
Heat-Shock Proteins;
genetics;
Humans;
Muscle Spasticity;
Mutation;
Spinocerebellar Ataxias;
congenital
- From:
Chinese Journal of Medical Genetics
2019;36(3):217-220
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE: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.
