摘要目的:对2个不相关的精神运动发育迟缓、面容异常的患儿进行临床和基因变异分析，探讨临床表型和基因型的相关性，为家系遗传咨询提供依据。方法:收集2个家系成员的临床资料和家族史，采用全外显子组测序分析患儿致病基因，确定可疑变异位点后对家系成员行Sanger测序验证。结果:两例患儿临床均表现为运动和语言发育迟缓、体格增长缓慢、面容异常，基因分析结果显示家系1患儿携带 ASXL3基因c.3096dup(p.P1033Tfs*2)杂合新发变异，家系2患儿携带 ASXL3基因c.3253G>T(p.G1085*)杂合新发变异，且这两个变异均未见既往研究报道。结合两个家系患儿的临床表型和基因检测结果，推测这两名患儿均为 ASXL3基因致病变异导致的Bainbridge-Ropers综合征。 结论:报道了两个Bainbridge-Ropers综合征家系，丰富了中国BRS患者的表型谱和突变谱，明确了患儿的遗传学病因，为家系的产前诊断提供了依据。

abstractsObjective:To analyze the clinical features and genetic variants in two unrelated patients with psychomotor retardation and facial abnormalities, and to explore their genotype-phenotype correlation.Methods:Clinical data and family history of the two pedigrees were collected. Whole exome sequencing (WES) and Sanger sequencing were carried out to detect the potential variants.Results:Both patients had presented with mental and language retardation, along with growth delay and facial anomalies. They were both found to harbor de novo loss-of-function variants in exon 12 of the ASXL3 gene, namely c. 3096dup (p.Pro1033Thrfs*2) and c. 3253G>T (p.Gly1085*). Neither variant was reported previously. Combined with their clinical features and genetic finding, both patients were diagnosed with Bainbridge-Ropes syndrome due to pathogenic variants of the ASXL3 gene. Conclusion:Diagnosis of Bainbridge-Ropes syndrome in the two pedigrees has enriched the genotypic and phenotypic spectrum of this disorder and enabled genetic counseling for them.