Clinical features and SLC6A8 gene mutations of cerebral creatine deficiency syndrome I: an analysis of two families.
- Author:
Wei-Hua SUN
1
;
Dan-Yan ZHUANG
;
Yao WANG
;
Fei-Fan XIAO
;
Meng-Yuan WU
;
Xin-Ran DONG
;
Ping ZHANG
;
Hui-Jun WANG
;
Wen-Hao ZHOU
;
Bing-Bing WU
Author Information
1. Pediatric Research Institute, Children's Hospital, Fudan University, Shanghai 201102, China. bingbingwu2010@163.com.
- Publication Type:Case Reports
- MeSH:
Child;
Child, Preschool;
Creatine;
Epilepsy;
Genetic Testing;
Humans;
Male;
Mutation;
Nerve Tissue Proteins;
genetics;
Plasma Membrane Neurotransmitter Transport Proteins;
genetics;
Syndrome
- From:
Chinese Journal of Contemporary Pediatrics
2020;22(5):482-487
- CountryChina
- Language:Chinese
-
Abstract:
This article reports the clinical and genetic features of two cases of cerebral creatine deficiency syndrome I (CCDSI) caused by SLC6A8 gene mutations. Both children were boys. Boy 1 (aged 2 years and 10 months) and Boy 2 (aged 8 years and 11 months) had the clinical manifestations of delayed mental and motor development, and convulsion. Their older brothers had the same symptoms. The mother of the boy 1 had mild intellectual disability. The genetic analysis showed two novel homozygous mutations, c.200G>A(p.Gly67Asp) and c.626_627delCT(p.Pro209Argfs*87), in the SLC6A8 gene on the X chromosome, both of which came from their mothers. These two novel mutations were rated as possible pathogenic mutations and were not reported in the literature before. This study expands the mutation spectrum of the SLC6A8 gene and has great significance in the diagnosis of boys with delayed development, and epilepsy.
