摘要目的:分析1例全面发育落后伴自闭症患儿的临床特征及遗传学病因。方法:选择2021年4月13日就诊于四川大学华西第二医院的1例患儿作为研究对象，回顾性分析其临床表现、实验室检查结果，并对其进行全外显子组测序(WES)，对候选变异进行致病性分析。结果:患儿主要表现为认知、语言、运动发育落后、自闭症、癫痫发作等；脑电图显示醒睡期多灶性放电，以睡眠期为甚。头颅MRI显示巨脑回畸形、局部皮质增厚。WES显示患儿具有 TBR1基因c.1589_1595dup(p.Gly533Leufs*143)杂合移码变异。根据美国医学遗传学与基因组学学会(ACMG)相关指南，判定为致病性变异(PS2＋PVS1_Supporting＋PM2_Supporting)。给予左乙拉西坦抗癫痫治疗及康复训练后，患儿近5个月未发作，运动发育较前好转。 结论:TBR1基因c.1589_1595dup变异可能为患儿的致病原因。

abstractsObjective:To explore the clinical characteristics and genetic basis for a child with global developmental delay and autism.Methods:A child who had presented at West China Second University Hospital of Sichuan University on April 13, 2021 was selected as the study subject. Clinical manifestations, laboratory examination and result of genetic testing were analyzed.Results:The main symptoms of the child had included cognitive, language and motor delay, autism and epilepsy. Electroencephalogram revealed multiple focal discharges in both waking and sleeping stages, with the remarkable one seen at the sleeping stage. Cranial MRI showed pachygyria and local cortical thickening, Whole exome sequencing (WES) revealed that the child has harbored a heterozygous c. 1589_1595dup (p.Gly533Leufs*143) frameshifting variant in the TBR1 gene (OMIM 604616). Based on the guidelines from the American College of Medical Genetics and Genomics, the variant was predicted to be likely pathogenic (PS2+ PVS1_Supporting+ PM2_Supporting). After treated with levetiracetam and rehabilitation training, the child did not have seizure in the past 5 months, and his motor development has also significantly improved. Conclusion:The c. 1589_1595dup variant of the TBR1 gene probably underlay the disease in this patient.