Multi-suture craniosynostosis in c.1570C>T (p.Arg524Trp) mutated TRAF7: a case report

Childs Nerv Syst. 2022 Apr;38(4):843-846. doi: 10.1007/s00381-021-05285-7. Epub 2021 Jul 10.

Abstract

Craniosynostosis is a condition of premature fusion of the cranial sutures. Multi-suture craniosynostosis has been found to be associated with a number of syndromes and underlying gene mutations. Tumour necrosis factor receptor-associated factors (TRAFs) are a family of adaptor proteins interacting with cell surface receptors or other signalling molecules. TRAF7 is one of the factors involved in multiple biologic processes, including ubiquitination, myogenesis and toll-like receptor signalling. Here, we report a child who presented with multi-suture craniosynostosis and had the uncommon c.1570C>T (p.Arg524Trp) variant of TRAF7.

Keywords: Arg524Trp; Craniosynostosis; TRAF7 mutation; c.1570C>T.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Cranial Sutures
  • Craniosynostoses* / diagnostic imaging
  • Craniosynostoses* / genetics
  • Craniosynostoses* / surgery
  • Humans
  • Mutation / genetics
  • Signal Transduction
  • Sutures / adverse effects
  • Tumor Necrosis Factor Receptor-Associated Peptides and Proteins / genetics
  • Tumor Necrosis Factor Receptor-Associated Peptides and Proteins / metabolism

Substances

  • TRAF7 protein, human
  • Tumor Necrosis Factor Receptor-Associated Peptides and Proteins