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
Pediatric Research Institute, Children's Hospital, Fudan University, Shanghai 201102, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2020 May;22(5):482-487. doi: 10.7499/j.issn.1008-8830.2002012.
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.
本文报道了两例由SLC6A8基因突变引起的脑肌酸缺乏综合征I型（CCDSI）的临床和遗传特征。两名患儿均为男孩。男孩1（2岁10个月）和男孩2（8岁11个月）有智力和运动发育迟缓以及惊厥的临床表现。他们的哥哥有相同症状。男孩1的母亲有轻度智力障碍。基因分析显示，在X染色体上的SLC6A8基因中有两个新的纯合突变，即c.200G>A（p.Gly67Asp）和c.626_627delCT（p.Pro209Argfs*87），这两个突变均来自他们的母亲。这两个新突变被评为可能的致病突变，此前文献中未报道过。本研究扩展了SLC6A8基因的突变谱，对发育迟缓男孩和癫痫的诊断具有重要意义。
