title: Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency.
abstract: We describe a novel chromosome microdeletion at 15q26.1 detected by oligo-array-CGH in a 6-year-old girl presenting with global development delay, epilepsy, autistic behavior and facial dysmorphisms. Although these features are often present in Angelman syndrome, no alterations were present in the methylation pattern of the Prader-Willi-Angelman critical region. The deletion encompasses only 2 genes: CHD2, which is part of a gene family already involved in CHARGE syndrome, and RGMA which exerts a negative control on axon growth. Deletion of either or both genes could cause the phenotype of this patient. These results provide a further chromosome region requiring evaluation in patients presenting Angelman features.
authors.affiliation: A C Camargo Cancer Hospital, São Paulo, Brazil.
authors.forename: Leonardo P
authors.initials: LP
authors.lastname: Capelli
authors.forename: Ana C V
authors.initials: AC
authors.lastname: Krepischi
authors.forename: Juliana
authors.initials: J
authors.lastname: Gurgel-Giannetti
authors.forename: Mirian Fabiola S
authors.initials: MF
authors.lastname: Mendes
authors.forename: Tatiane
authors.initials: T
authors.lastname: Rodrigues
authors.forename: Monica C
authors.initials: MC
authors.lastname: Varela
authors.forename: Célia P
authors.initials: CP
authors.lastname: Koiffmann
authors.forename: Carla
authors.initials: C
authors.lastname: Rosenberg
mesh_terms: D017204:Angelman Syndrome / Q000235:genetics; D002648:Child; D002884:Chromosomes, Human, Pair 15; D004268:DNA-Binding Proteins / Q000235:genetics*; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D010641:Phenotype
chemical_list: C575189:CHD2 protein, human; D004268:DNA-Binding Proteins