[A case of TARP syndrome caused by RBM10 gene variation]

Zhonghua Er Ke Za Zhi. 2020 Nov 2;58(11):941-944. doi: 10.3760/cma.j.cn112140-20200320-00281.
[Article in Chinese]

Abstract

患儿 男，5月龄，因“生后反复撤机失败、气管切开1个月余”就诊，临床表现有发育迟缓、Robin序列征（腭裂、小下颌、舌后坠）、房间隔缺损、指趾端发育畸形、听力缺失、睡眠呼吸障碍、喂养困难。经医学外显子疾病筛查检测到患儿X染色体编码RBM10基因的（chrX）47044937位点存在c.2263G>A（p.D755N）半合变异，确诊为以马蹄内翻足、房间隔缺损、Robin序列征（小下颌、腭裂、舌后坠）、永存左上腔静脉等畸形的一组综合征，简称为TARP综合征。.

Publication types

  • Case Reports

MeSH terms

  • Clubfoot* / genetics
  • Heart Defects, Congenital* / genetics
  • Humans
  • Pierre Robin Syndrome* / genetics
  • RNA-Binding Proteins* / genetics

Substances

  • RBM10 protein, human
  • RNA-Binding Proteins

Supplementary concepts

  • TARP syndrome