Analysis of SACS mutation in a family affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 217-220, 2019.
Article
in Zh
| WPRIM
| ID: wpr-775765
Responsible library:
WPRO
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.
Full text:
1
Index:
WPRIM
Main subject:
Spinocerebellar Ataxias
/
Genes, Recessive
/
Genetics
/
Heat-Shock Proteins
/
Muscle Spasticity
/
Mutation
Limits:
Female
/
Humans
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article