A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome

Am J Med Genet A. 2014 Jan;164A(1):190-3. doi: 10.1002/ajmg.a.36200. Epub 2013 Nov 15.

Abstract

We report on a 21-year old woman with intellectual disability, autistic features, severe obesity, and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome (WHS). Array-CGH analysis showed a 2.89 Mb deletion on chromosome 14q11.2 containing 47 known genes. The most interesting genes included in this deletion are CHD8, a chromodomain helicase DNA binding protein that is associated with autism spectrum disorders, and MMP14, a matrix metalloproteinase that has been linked to obesity and type 2 diabetes. This report shows that 14q11.2 microdeletions can mimic WHS and suggests that gene(s) in the deleted interval that may be responsible for a phenocopy of WHS.

Keywords: 14q11.2 microdeletion syndrome; CHD8 gene; MMP14 gene; Wolf-Hirschhorn syndrome.

Publication types

  • Case Reports

MeSH terms

  • Autistic Disorder / diagnosis
  • Autistic Disorder / genetics
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 4*
  • Craniofacial Abnormalities / diagnosis
  • Craniofacial Abnormalities / genetics
  • Diagnosis, Differential
  • Facies
  • Female
  • Humans
  • Infant, Newborn
  • Obesity / diagnosis
  • Obesity / genetics
  • Phenotype*
  • Wolf-Hirschhorn Syndrome / diagnosis*
  • Wolf-Hirschhorn Syndrome / genetics*
  • Young Adult