[Intellectual disorder and idiopathic sick sinus syndrome associated with GNB5 mutation: a case report]

Zhonghua Xin Xue Guan Bing Za Zhi. 2021 Feb 24;49(2):185-187. doi: 10.3760/cma.j.cn112148-20200423-00342.
[Article in Chinese]

Abstract

小儿特发性病态窦房结综合征是在儿童时期起病,表现为窦房结功能障碍的心律失常综合征,通常认为与遗传性因素有关。随着基因测序技术的发展,与特发性病态窦房结综合征相关的基因变异位点陆续被发现,人们对其发病机制的认识已深入到分子水平。本文报道1例智力障碍伴特发性病态窦房结综合征的病例,为GNB5基因移码变异c.136delG。该基因变异临床罕见,丰富了特发性窦房结综合征的基因和临床表型谱,为该病的精准诊断及遗传咨询提供依据。.

Publication types

  • Case Reports

MeSH terms

  • Electrocardiography
  • GTP-Binding Protein beta Subunits* / genetics
  • Humans
  • Mutation
  • Pedigree
  • Sick Sinus Syndrome* / genetics

Substances

  • GNB5 protein, human
  • GTP-Binding Protein beta Subunits