A new single gene deletion on 2q34: ERBB4 is associated with intellectual disability

Am J Med Genet A. 2013 Jun;161A(6):1487-90. doi: 10.1002/ajmg.a.35911. Epub 2013 Apr 30.


We report on a 15-year-old patient with hyperactivity, intellectual disability and severe speech developmental delay. An array CGH analysis revealed de novo 2q34 deletion, 958 kb in size, involving a single protein coding gene ERBB4 (position 212,505,294-213,463,152; NCBI build 36). The ERBB4 gene is important in numerous neurobiological processes in both the developing and the adult brain. The NRG1-ERBB4 signaling pathway has been recently implicated in the pathophysiology of schizophrenia and epilepsy. Many risk haplotypes were identified in several studies across different populations. The severe clinical consequences in our patient demonstrate that the haploinsufficiency of ERBB4 is crucial for intellectual and cognitive function. These observations are compatible with previously reported results.

Publication types

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

MeSH terms

  • Adolescent
  • Chromosome Banding
  • Chromosome Deletion
  • Chromosomes, Human, Pair 2 / genetics
  • Comparative Genomic Hybridization
  • Gene Deletion*
  • Genetic Predisposition to Disease
  • Haploinsufficiency
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Karyotype
  • Male
  • Promoter Regions, Genetic / genetics
  • Real-Time Polymerase Chain Reaction
  • Receptor, ErbB-4 / genetics*


  • ERBB4 protein, human
  • Receptor, ErbB-4

Supplementary concepts

  • Chromosome 2, monosomy 2q