[Rett syndrome-like phenotype caused by EEF1A2 gene in 2 children]

Zhonghua Er Ke Za Zhi. 2024 Nov 2;62(11):1113-1115. doi: 10.3760/cma.j.cn112140-20240414-00262.
[Article in Chinese]

Abstract

2例患儿分别于2岁1月龄、8月龄时就诊，均表现为智力、言语及运动全面发育迟缓，伴有手足徐动、肌张力异常、手部刻板动作、睡眠障碍、小头畸形，符合Rett综合征样表型。通过全外显子家系测序分析发现，均携带EEF1A2基因的杂合变异，分别为c.424A>G（p.Thr142Ala）和 c.289G>C（p.Asp97His）。EEF1A2基因变异与Rett综合征样表型具有相关性。.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • DNA Mutational Analysis
  • Exons
  • Female
  • Heterozygote
  • Humans
  • Infant
  • Male
  • Microcephaly / genetics
  • Mutation*
  • Peptide Elongation Factor 1* / genetics
  • Phenotype*
  • Rett Syndrome* / diagnosis
  • Rett Syndrome* / genetics

Substances

  • Peptide Elongation Factor 1
  • EEF1A2 protein, human