A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

Nat Genet. 2009 Dec;41(12):1269-71. doi: 10.1038/ng.481. Epub 2009 Nov 8.


We report a recurrent 680-kb deletion within chromosome 15q13.3 in ten individuals, from four unrelated families, with neurodevelopmental phenotypes including developmental delay, mental retardation and seizures. This deletion likely resulted from nonallelic homologous recombination between low-copy repeats on the normal and inverted region of chromosome 15q13.3. Although this deletion also affects OTUD7A, accumulated data suggest that haploinsufficiency of CHRNA7 is causative for the majority of neurodevelopmental phenotypes in the 15q13.3 microdeletion syndrome.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adult
  • Chromosome Deletion*
  • Female
  • Gene Expression Regulation, Developmental
  • Humans
  • Infant
  • Intellectual Disability / genetics*
  • Male
  • Middle Aged
  • Nervous System Malformations / genetics*
  • Phenotype*
  • Receptors, Nicotinic / genetics
  • Recombination, Genetic
  • Seizures / genetics
  • alpha7 Nicotinic Acetylcholine Receptor


  • Chrna7 protein, human
  • Receptors, Nicotinic
  • alpha7 Nicotinic Acetylcholine Receptor