15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity

Eur J Med Genet. 2014 Sep;57(9):520-3. doi: 10.1016/j.ejmg.2014.06.003. Epub 2014 Jun 13.

Abstract

We report two patients with microdeletions in chromosomal subdomain 15q26.1 encompassing only two genes, CHD2 and RGMA. Both patients present a distinct phenotype with intellectual disability, epilepsy, behavioral issues, truncal obesity, scoliosis and facial dysmorphism. CHD2 haploinsufficiency is known to cause intellectual disability and epilepsy, RGMA haploinsufficiency might explain truncal obesity with onset around puberty observed in our two patients.

Keywords: Array-CGH; CHD2; Epilepsy; Intellectual disability; Microdeletion 15q26.1; RGMA.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 15*
  • DNA-Binding Proteins / genetics*
  • Epilepsy / diagnosis
  • Epilepsy / genetics*
  • Facies
  • GPI-Linked Proteins / genetics
  • Humans
  • Infant
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Male
  • Nerve Tissue Proteins / genetics*
  • Obesity / diagnosis
  • Obesity / genetics*
  • Phenotype
  • Young Adult

Substances

  • CHD2 protein, human
  • DNA-Binding Proteins
  • GPI-Linked Proteins
  • Nerve Tissue Proteins
  • RGMA protein, human