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Clinical features and SLC6A8 gene mutations of cerebral creatine deficiency syndrome I: an analysis of two families
SUN Wei-Hua, ZHUANG Dan-Yan, WANG Yao, XIAO Fei-Fan, WU Meng-Yuan, DONG Xin-Ran, ZHANG Ping, WANG Hui-Jun, ZHOU Wen-Hao, WU Bing-Bing
Chinese Journal of Contemporary Pediatrics ›› 2020, Vol. 22 ›› Issue (5) : 482-487.
PDF(2764 KB)
PDF(2764 KB)
Clinical features and SLC6A8 gene mutations of cerebral creatine deficiency syndrome I: an analysis of two families
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.
Cerebral creatine deficiency syndrome I / SLC6A8 gene / Delayed development / Epilepsy / Child
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