Hidden Aberrant Transcripts in TTC37 Cause Trichohepatoenteric Syndrome

Clin Genet. 2025 Jan;107(1):113-114. doi: 10.1111/cge.14630. Epub 2024 Oct 10.

Abstract

The patient had clinical suspicion of THES. Complex genetic analyzes using WES, WGS were performed without success in the diagnosis. Further molecular analyzes using RNA and protein was necessary to reach the final correct THES diagnosis.

Keywords: RNA; WES; WGS; syndromic diarrhea; trichohepatoenteric syndrome.

Publication types

  • Case Reports

MeSH terms

  • Diarrhea, Infantile / genetics
  • Facies
  • Female
  • Fetal Growth Retardation / genetics
  • Hair Diseases* / diagnosis
  • Hair Diseases* / genetics
  • Humans
  • Male
  • Mutation

Substances

  • TTC37 protein, human

Supplementary concepts

  • Trichohepatoenteric Syndrome