title: 15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity.
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.
authors.affiliation: Division of Human Genetics, Department of Pediatrics, Inselspital, University of Bern, Switzerland. Electronic address: carolina.courage@insel.ch.
authors.forename: Carolina
authors.initials: C
authors.lastname: Courage
authors.affiliation: Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.
authors.forename: Gunnar
authors.initials: G
authors.lastname: Houge
authors.affiliation: Division of Human Genetics, Department of Pediatrics, Inselspital, University of Bern, Switzerland.
authors.forename: Sabina
authors.initials: S
authors.lastname: Gallati
authors.affiliation: Habilitation Service for Adults, Haukeland University Hospital, Bergen, Norway.
authors.forename: Jack
authors.initials: J
authors.lastname: Schjelderup
authors.affiliation: Division of Human Genetics, Department of Pediatrics, Inselspital, University of Bern, Switzerland.
authors.forename: Claudine
authors.initials: C
authors.lastname: Rieubland
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D004268:DNA-Binding Proteins / Q000235:genetics*; D004827:Epilepsy / Q000175:diagnosis / Q000235:genetics*; D019066:Facies; D058851:GPI-Linked Proteins / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009765:Obesity / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D055815:Young Adult
chemical_list: C575189:CHD2 protein, human; D004268:DNA-Binding Proteins; D058851:GPI-Linked Proteins; D009419:Nerve Tissue Proteins; C522183:RGMA protein, human
keywords: Array-CGH; CHD2; Epilepsy; Intellectual disability; Microdeletion 15q26.1; RGMA