Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA

Eur J Med Genet. 2014 Mar;57(4):163-8. doi: 10.1016/j.ejmg.2014.02.001. Epub 2014 Feb 11.

Abstract

Microdeletions in the 15q22 region have not been well documented. We collected genotype and phenotype data from five patients with microdeletions involving 15q22.2, which were between 0.7 Mb and 6.5 Mb in size; two were of de novo origin and one was of familial origin. Intellectual disability and epilepsy are frequently observed in patients with 15q22.2 deletions. Genotype-phenotype correlation analysis narrowed the critical region for such neurologic symptoms to a genomic region of 654 Kb including the NMDA receptor-regulated 2 gene (NARG2) and the PAR-related orphan receptor A gene (RORA), either of which may be responsible for neurological symptoms commonly observed in patients with deletions in this region. The neighboring regions, including the forkhead box B1 gene (FOXB1), may also be related to the additional neurological features observed in the patients with larger deletions.

Keywords: 15q22.2; Epilepsy; Forkhead box B1 (FOXB1); Intellectual disability; Microdeletion; NMDA receptor-regulated 2 (NARG2); RAR-related orphan receptor A (RORA).

Publication types

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

MeSH terms

  • Adolescent
  • Child, Preschool
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 15 / genetics*
  • DNA Copy Number Variations
  • Female
  • Genetic Association Studies / methods*
  • Genotype
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / genetics*
  • Male
  • Nuclear Proteins / genetics*
  • Nuclear Receptor Subfamily 1, Group F, Member 1 / genetics*
  • Phenotype
  • Transcriptional Elongation Factors
  • Young Adult

Substances

  • ICE2 protein, human
  • Nuclear Proteins
  • Nuclear Receptor Subfamily 1, Group F, Member 1
  • RORA protein, human
  • Transcriptional Elongation Factors