综合报道

Bainbridge-Ropers 综合征1 例报告并文献复习

  • GOU Jing ,
  • ZHOU Shaoming ,
  • CAI Huabo ,
  • et al
展开
  • 深圳市儿童医院消化内科(广东深圳 518038)

网络出版日期: 2019-03-25

基金资助

河南省医学科技攻关计划项目(No.2011030824);国家自然科学基金项目(No.81701125)

Bainbridge-Ropers syndrome: a case report and literature review

  • 苟 静,周少明,蔡华波,等
Expand
  • Department of Gastroenterology, Shenzhen Children’ Hospital, Shenzhen 518038, Guangdong, China

Online published: 2019-03-25

摘要

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。

本文引用格式

GOU Jing , ZHOU Shaoming , CAI Huabo , et al . Bainbridge-Ropers 综合征1 例报告并文献复习[J]. 临床儿科杂志, 2019 , 37(3) : 212 . DOI: 10.3969/j.issn.1000-3606.2019.03.013

Abstract

 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.
文章导航

/