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.
Copyright © 2014 Elsevier Masson SAS. All rights reserved.