Bainbridge-Ropers综合征1例报告并文献复习

Bainbridge-Ropers syndrome: a case report and literature review

目的探讨Bainbridge-Ropers综合征的临床特点及遗传学特征。方法回顾分析1例Bainbridge-Ropers综合征患儿的临床资料,并复习相关文献。结果患儿,男,1岁1个月,以精神运动发育落后、喂养困难、肌张力低下及特殊面容为主要临床表现;全外显子基因测序显示ASXL3基因12号外显子c.3106C>T(p.R1036*)杂合突变,确诊为BainbridgeRopers综合征。目前国内外文献共报道30余例,几乎所有患者存在运动、语言及智力发育迟缓,而且程度严重。结论Bainbridge-Ropers综合征是一种与ASXL3基因功能缺失突变有关的疾病,主要临床特征包括精神运动发育落后、喂养困难、肌张力低下及特殊面容。

Objective To explore the clinical features and genetic characteristics of Bainbridge-Ropers syndrome. Method The clinical data of Bainbridge-Ropers syndrome in a child were retrospectively analyzed, and related literature was reviewed. Results A boy aged 1 year and 1 month had the main clinical manifestations of psychomotor retardation, feeding difficulties, muscle hypotonia and special facial features. A heterozygous mutation c.3106C>T (p.R1036*) in exon 12 of ASXL3 gene was identified by the whole exon sequencing, and the patient was diagnosed with Bainbridge-Ropers syndrome. Currently more than 30 cases have been reported in domestic and foreign literature. Almost all patients had severe retardation in motor, language and mental development. Conclusion Bainbridge-Ropers syndrome is a disease associated with ASXL3 gene deletion mutation. Its main clinical features include mental and motor retardation, difficulty in feeding, muscle hypotonia and special facial features.