Evidence for a Pathogenic Role of CSMD1 in Childhood Apraxia of Speech

Neuropediatrics. 2023 Dec;54(6):407-411. doi: 10.1055/s-0043-1771033. Epub 2023 Aug 7.

Abstract

Childhood apraxia of speech (CAS) is a pediatric motor speech disorder. The genetic etiology of this complex neurological condition is not yet well understood, although some genes have been linked to it. We describe the case of a boy with a severe and persistent motor speech disorder, consistent with CAS, and a coexisting language impairment.Whole exome sequencing in our case revealed a de novo and splicing mutation in the CSMD1 gene.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Apraxias* / genetics
  • Child
  • Exome Sequencing
  • Humans
  • Male
  • Membrane Proteins / genetics
  • Mutation / genetics
  • Speech Disorders / genetics
  • Speech*
  • Tumor Suppressor Proteins / genetics

Substances

  • CSMD1 protein, human
  • Membrane Proteins
  • Tumor Suppressor Proteins