Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations

Eur J Hum Genet. 2014 Dec;22(12):1413-6. doi: 10.1038/ejhg.2014.57. Epub 2014 Apr 16.

Abstract

TCF12 mutations have been reported very recently in coronal synostosis. We report several cases of familial coronal synostosis among four families harbouring novel TCF12 mutations. We observed a broad interfamilial phenotypic spectrum with features overlapping with the Saethre-Chotzen syndrome. TCF12 molecular testing should be considered in patients with unilateral- or bilateral-coronal synostosis associated or not with syndactyly, after having excluded mutations in the TWIST1 gene and the p.Pro250Arg mutation in FGFR3.

Publication types

  • Case Reports

MeSH terms

  • Acrocephalosyndactylia / genetics
  • Basic Helix-Loop-Helix Transcription Factors / genetics*
  • DNA Mutational Analysis
  • Female
  • Humans
  • Infant
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Nuclear Proteins / genetics
  • Pedigree
  • Receptor, Fibroblast Growth Factor, Type 3 / genetics
  • Synostosis / genetics*
  • Synostosis / pathology
  • Twist-Related Protein 1 / genetics

Substances

  • Basic Helix-Loop-Helix Transcription Factors
  • Nuclear Proteins
  • TWIST1 protein, human
  • Twist-Related Protein 1
  • TCF12 protein, human
  • FGFR3 protein, human
  • Receptor, Fibroblast Growth Factor, Type 3