目的 分析由SON基因变异引起ZTTK综合征的临床特点及遗传学特征。方法 回顾分析1例ZTTK综合征 患儿的临床资料。结果 患儿，男，3岁，表现为运动发育迟缓、智力异常，脑电图异常，头颅磁共振成像示胼胝体发育不良。 二代测序发现患儿SON基因3号外显子存在c. 5753 - 5756 del（p.Val 1918 GlufsTer 87）杂合变异。Sanger验证发现患儿父母 均未携带该变异，为新生变异。根据美国医学遗传学与基因组学学会（ACMG）指南，符合“PVS 1 +PS 2 +PM 2”证据，综合 评级为“致病”。结论 患儿确诊ZTTK综合征，丰富了SON基因变异谱。

To analyze the clinical phenotype and genetic characteristics of Zhu-Tokita-TakenouchiKim (ZTTK) syndrome caused by SON gene mutation. Methods The clinical data of ZTTK syndrome from one proband were collected, and the suspected ZTTK syndrome was diagnosed by the next generation sequencing technology and Sanger sequencing. Results A 3 -year-old boy presented with psychomotor developmental delay, intellectual disability, ECG abnormality and hypoplasia of the corpus calloum. Gene tests found a de novo heterozygous mutation of c. 5753 - 5756 del, (p.Val 1918 Glufs* 87 ) in the SON gene. According to the ACMG guidelines, the mutation was classified as pathogenic. Conclusions The patient’s clinical phenotype was consistent with ZTTK syndrome. The heterozygous mutation of c. 5753 - 5756 del, p.Val1918 Glufs* 87 in SON was pathogenic, which enriches the SON gene variant spectrum in Chinese children.