Clinical characterization and genetic testing for a patient with creatine deficiency syndrome 1.
10.3760/cma.j.cn511374-20201103-00773
- VernacularTitle:一例脑肌酸缺乏症Ⅰ型患者的临床特征及基因变异分析
- Author:
Shu XYU
1
;
Chen XU
;
Yuan LYU
;
Chuang LI
;
Caixia LIU
Author Information
1. Chaoyang Central Hospital, Chaoyang, Liaoning 122000, China. xvshu12321@163.com.
- Publication Type:Journal Article
- MeSH:
Brain Diseases, Metabolic, Inborn/genetics*;
Creatine;
Genetic Testing;
Heterozygote;
Humans;
Mental Retardation, X-Linked;
Mutation
- From:
Chinese Journal of Medical Genetics
2022;39(2):213-215
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a child affected with cerebral creatine deficiency syndrome 1 (CCDS1).
METHODS:High-throughput sequencing was carried out to screen pathogenic variant associated with the clinical phenotype of the proband. The candidate variant was verified by Sanger sequencing.
RESULTS:High-throughput sequencing revealed that the proband has carried heterozygous c.327delG variant of the SLC6A8 gene, which was verified by Sanger sequencing.Neither parent was found to carry the same variant.
CONCLUSION:The de novo heterozygous c.327delG variant of the SLC6A8 gene probably underlay the CCDS1 in this child.
