Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in TCOF1

Am J Med Genet A. 2004 Jul 15;128A(2):173-5. doi: 10.1002/ajmg.a.30038.

Abstract

Treacher Collins syndrome (TCS) is caused by mutations in TCOF1 of the nonsense, small deletion, and small insertion types, which most likely result in haploinsufficiency. We report a novel de novo nonsense mutation 2731C --> T, resulting in Arg911Stop, which truncates the protein. Our patient had the classic findings of TCS, but with documented craniosynostosis, choanal atresia, and esophageal regurgitation.

Publication types

  • Case Reports

MeSH terms

  • Arginine / chemistry
  • Child, Preschool
  • Codon, Nonsense*
  • Codon, Terminator / chemistry
  • Craniosynostoses / genetics*
  • DNA Mutational Analysis
  • Exons
  • Facies
  • Female
  • Gastroesophageal Reflux / genetics*
  • Gene Deletion
  • Humans
  • Mandibulofacial Dysostosis / genetics*
  • Mutation
  • Nuclear Proteins / genetics*
  • Phosphoproteins / genetics*
  • Polymorphism, Single-Stranded Conformational
  • Tomography, X-Ray Computed

Substances

  • Codon, Nonsense
  • Codon, Terminator
  • Nuclear Proteins
  • Phosphoproteins
  • TCOF1 protein, human
  • Arginine