CHAMP1基因新发突变致常染色体显性智力障碍40型1例

Autosomal dominant intellectual disability-40 caused by a de novo mutation of the CHAMP1 gene:a case report

该患儿为6月龄男婴,表现为智力运动发育迟缓、竖头不稳、全身松软、双手不知主动抓物及特殊面容(眼距稍宽、内眦赘皮、稍内斜视、张口容貌、人中短、低位耳)。基因检测结果回报CHAMP1基因存在新发杂合移码突变,染色体位置为chr13:115089847,核酸改变为c.530delCinsTTT,导致氨基酸改变为p.S177Ffs*2,从而确诊为CHAMP1基因突变致常染色体显性智力障碍40型。该病例报道提示,对于不明原因智力障碍的患儿,尤其是存在全身性肌张力低下、严重语言障碍者,应考虑CHAMP1基因突变的可能,应尽早进行遗传学检测。

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.