Severe intellectual disability and autistic features associated with microduplication 2q23.1

Eur J Hum Genet. 2012 Apr;20(4):398-403. doi: 10.1038/ejhg.2011.199. Epub 2011 Nov 16.


We report on two patients with developmental delay, hypotonia, and autistic features associated with duplications of chromosome region 2q23.1-2q23.2 detected by chromosome microarray analysis. The duplications include one OMIM Morbid Map gene, MBD5, as well as seven known RefSeq genes (ACVR2A, ORC4L, EPC2, KIF5C, MIR1978, LYPD6B, and LYPD6). MBD5 lies in the minimum area of overlap of the 2q23.1 microdeletion syndrome. This report provides the first detailed clinical examination of two individuals with a duplication of this region and suggests that brain development and cognitive function may be affected by an increased dosage of the genes involved.

Publication types

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

MeSH terms

  • Adolescent
  • Cells, Cultured
  • Chromosomes, Human, Pair 2 / genetics*
  • Comparative Genomic Hybridization
  • DNA-Binding Proteins / genetics
  • Developmental Disabilities / genetics*
  • Female
  • Gene Duplication*
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Oligonucleotide Array Sequence Analysis


  • DNA-Binding Proteins
  • MBD5 protein, human