Muscular phenotype description of abnormal THOC2 splicing

Neuromuscul Disord. 2023 Dec;33(12):978-982. doi: 10.1016/j.nmd.2023.09.009. Epub 2023 Oct 5.

Abstract

Until recently, the disease known to be associated with THOC2 mutations was Intellectual developmental disorder, X-linked 12 (MIM300957). However, recently, fetal arthrogryposis multiplex congenita has been associated with a specific splice site mutation in the THOC2 gene. We report a family with the same splice site mutation in the THOC2 gene involved in fetal arthrogryposis as well. We provide the first description of the muscular phenotype of this disease which reveals the presence of cytoplasmic bodies. Our findings expand the clinical phenotype of THOC2 gene related defects.

Keywords: Cytoplasmic body; Fetal arthrogryposis; Myopathy; THOC2 mutation.

Publication types

  • Case Reports

MeSH terms

  • Arthrogryposis* / diagnosis
  • Arthrogryposis* / genetics
  • Humans
  • Infant, Newborn
  • Intellectual Disability* / diagnosis
  • Intellectual Disability* / genetics
  • Male
  • Mutation
  • Phenotype
  • RNA Splicing*
  • RNA-Binding Proteins* / genetics

Substances

  • Thoc2 protein, human
  • RNA-Binding Proteins