Identification of compound heterozygous mutations of SACS gene in two patients from a pedigree with spastic ataxia of Charlevoix-Saguenay.
- Author:
Shirong LI
1
;
Yongping CHEN
;
Xiaoqin YUAN
;
Qianqian WEI
;
Ruwei OU
;
Xiaojing GU
;
Huifang SHANG
Author Information
- Publication Type:Journal Article
- From: Chinese Journal of Medical Genetics 2018;35(4):507-510
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo 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).
METHODSGenomic 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.
RESULTSNext generation sequencing revealed novel compound heterozygous mutations of the SACS gene, namely c.13085T to 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.
CONCLUSIONThe c.5236dupA (p.T1746fs) and c.13085T to G (p.I4362R) mutations of the SACS gene probably underlie the ocular symptoms and hearing loss in the proband.
