Wang Ming-Mei, Zhu Deng-Na, Li San-Song, Zhang Guang-Yu, Yang Lei, Zhao Yun-Xia, Liu Han-You
Department of Child Rehabilitation, Third Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2020 Oct;22(10):1131-1134. doi: 10.7499/j.issn.1008-8830.2004163.
A boy, aged 6 months, had the manifestations of intellectual and motor developmental delay, head instability, general weakness, unawareness of grasping objects by hands, and unusual facies (slightly wide eye distance, epicanthus, esotropia, mouth-opening appearance, short philtrum, and low-set ears). Gene detection results showed a de novo heterozygous frameshift mutation of the CHAMP1 gene at the chromosomal location of chr13:115089847, and nuclear acid was changed to c.530delCinsTTT, resulting in a change in amino acid to p.S177Ffs*2. Therefore, the boy was diagnosed with autosomal dominant intellectual disability-40 caused by the mutation in the CHAMP1 gene. This case report suggests that for children with unexplained intellectual disability, especially those with generalized hypotonia and severe language disorder, the possibility of CHAMP1 gene mutation should be considered, and genetic testing should be performed as early as possible.
一名6个月大的男童，有智力和运动发育迟缓、头部不稳、全身无力、双手不会抓物以及特殊面容（眼距稍宽、内眦赘皮、内斜视、张口样面容、人中短、耳位低）等表现。基因检测结果显示，在染色体13号位置chr13:115089847处存在CHAMP1基因的新生杂合移码突变，核酸变为c.530delCinsTTT，导致氨基酸变为p.S177Ffs*2。因此，该男童被诊断为CHAMP1基因突变所致的常染色体显性遗传性智力障碍40型。本病例报告提示，对于不明原因智力障碍的儿童，尤其是伴有全身性肌张力低下和严重语言障碍者，应考虑CHAMP1基因突变的可能性，并尽早进行基因检测。
