ISSN 1674-3865  CN 21-1569/R
主管:国家卫生健康委员会
主办:中国医师协会
   辽宁省基础医学研究所
   辽宁中医药大学附属医院

中国中西医结合儿科学 ›› 2020, Vol. 12 ›› Issue (5): 457-462.doi: 10.3969/j.issn.1674-3865.2020.05.025

• 临床研究 • 上一篇    下一篇

XiaGibbs综合征临床与遗传学分析

苏惠红,林彩梅   

  1. 361000 福建 厦门,厦门市儿童医院神经内科
  • 出版日期:2020-10-25 发布日期:2020-11-28
  • 通讯作者: 林彩梅,E-mail:727764114@qq.com
  • 作者简介:苏惠红(1989-),女,医学硕士,医师。研究方向:儿童神经系统疾病的诊治

Clinical and genetic analysis of XiaGibbs syndrome

  • Online:2020-10-25 Published:2020-11-28

摘要: 目的 探讨AHDC1基因突变致XiaGibbs综合征(XGS)的临床特征及基因变异特点。 方法 报告2例AHDC1基因突变致XGS患儿的临床资料和全外显子组测序结果,并对文献复习,收集基因诊断明确的XGS病例,总结临床表型和基因突变特点。 结果 1例为男性,1例为女性,确诊年龄分别为7个月和7岁11个月。2例均有运动语言落后、肌张力减低、颅脑MRI异常、脑电图异常,男性患儿有特殊面容(双眼内斜视、鼻梁低平)、皮肤血管瘤、卵圆孔未闭、全外显子组测序发现AHDC1基因新发无义突变c.4321(exon)C>T(p.Q1441X,163),女性患儿有癫痫、全外显子组测序发现AHDC1基因新发移码突变C.1122dupC(p.Gly375fs)。检索PubMed、万方和中国期刊全文数据库,共检索到AHDC1突变相关文献10篇,其中英文8篇,中文2篇,与本文病例合并后共40例AHDC1突变病例,大多数有全面性发育落后(97.5%)、肌张力低下(87.5%)、特殊面容(77.5%)、睡眠呼吸暂停(42.5%),颅脑影像学胼胝体发育不良常见;基因突变以移码突变(70%)最常见。 结论 AHDC1基因突变致XGS的主要特点为发育落后、肌张力低下、特殊面容和睡眠呼吸暂停等,根据临床表型进行基因检测可明确诊断。

关键词: XiaGibbs综合征, AHDC1, 基因, 儿童

Abstract: Objective To investigate the clinical symptoms and gene variation of XiaGibbs syndrome(XGS) caused by ADHC1 gene mutation. Methods The clinical data of 2 children with XGS caused by the ADHC1 gene mutation and the results of whole exome sequencing(WES) were analyzed and summarized retrospectively. The literatures were reviewed to collect XGS cases with confirmed genetic diagnosis, and the clinical phenotypes and gene mutation features were summarized. Results The male patient was 7 months and the female patient was 7 years and 11 months. Both patients had sport language retardation, muscle tension reduction, and brain MRI and EEG abnormalities. The male patient had an special facial features(binocular esotropia, low bridge of nose), skin hemangioma, patent foramen ovale, new nonsense mutation of ADHC1 gene found by WES[1-8c.4321(exon) C > T(p.Q1441X,163)]. The female had epilepsy, new frame shift mutation of ADHC1 gene found by WES[c.1122dupC (p.gly375fs)].Eight English literatures and two Chinese literatures were retrieved from the Pubmed, Wanfang and CNKI databases. There were 40 cases of AHDC1 mutation in total including the 2 cases. Most of them had comprehensive underdevelopment(97.5%), hypotonia(87.5%), special facial features(77.5%), and sleep apnea(42.5%). Dysgenesis of corpus callosum was common in craniocerebral imaging, and frame shift mutation(70%) was the most common gene mutation. Conclusion The main symptoms of XGS caused by AHDC1 gene mutation are underdevelopment, hypotonia, special facial features and sleep apnea, which can be diagnosed by gene detection based on clinical phenotypes.

Key words: XiaGibbs syndrome, AHDC1, Gene, Child