Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability

Clin Genet. 2015 Oct;88(4):e1-3. doi: 10.1111/cge.12634. Epub 2015 Jul 27.


We report two Colombian siblings affected by overgrowth, intellectual disability and facial dysmorphism. Exome (via NGS) and Sanger sequencing revealed that biallelic sequence variants in a novel gene (HERC1) might be related to the disease pathogenesis. These results provide useful data for future genotype-phenotype correlations and for a molecular diagnosis of overgrowth.

Keywords: HERC1 mutations; exome sequencing; intellectual disability; overgrowth.

Publication types

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

MeSH terms

  • DNA Mutational Analysis
  • Female
  • Genetic Association Studies
  • Genome, Human
  • Growth Disorders / genetics*
  • Growth Disorders / pathology
  • Guanine Nucleotide Exchange Factors / genetics*
  • Humans
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Male
  • Mutation*
  • Syndrome
  • Ubiquitin-Protein Ligases


  • Guanine Nucleotide Exchange Factors
  • HERC1 protein, human
  • Ubiquitin-Protein Ligases