HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability

Eur J Med Genet. 2013 Jul;56(7):379-82. doi: 10.1016/j.ejmg.2013.05.005. Epub 2013 May 27.

Abstract

The advent of next-generation sequencing has proven to be a key force in the identification of new genes associated with intellectual disability. In this study, high-throughput sequencing of the coding regions of the X-chromosome led to the identification of a missense variant in the HUWE1 gene. The same variant has been reported before by Froyen et al. (2008). We compare the phenotypes and demonstrate that, in the present family, the HUWE1 mutation segregates with the more severe ID phenotypes of two out of three brothers. The third brother has a milder form of ID and does not carry the mutation.

Keywords: Chromosome X exome sequencing; HUWE1; Intellectual disability; Missense mutation.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child, Preschool
  • Chromosomes, Human, X / genetics*
  • Exome / genetics
  • Female
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Male
  • Mutation, Missense*
  • Pedigree
  • Phenotype*
  • Tumor Suppressor Proteins
  • Ubiquitin-Protein Ligases / genetics*
  • Upper Extremity Deformities, Congenital / diagnosis
  • Upper Extremity Deformities, Congenital / genetics

Substances

  • Tumor Suppressor Proteins
  • HUWE1 protein, human
  • Ubiquitin-Protein Ligases