title: A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features.
abstract: We report a 11 year old male patient ascertained for mild intellectual disability and minor dysmorphic features, carrying a 1 Mb de novo deletion on chromosome 11q13.1q13.2 detected by aCGH. This is the first report of a deletion in this region in a patient presenting with intellectual impairment and mild dysmorphic traits. The 1 Mb deleted area encompasses 47 RefSeq genes, including Cornichon homologue 2 (CNIH2), Cofilin-1 (CFL1) and neuronal PAS domain-containing protein 4 (NPAS4), which are highly expressed in the central nervous system. Knockout of the CNIH2 and CFL1 orthologues in animals results in migration disturbances, while low or no expression of Npas4 in mice results in impairment of memory and learning. These three genes have previously been suggested as candidate genes for neurological disorders.
authors.affiliation: Department of Medical Genetics, Institute of Clinical Medicine, University of Oslo, Norway. k.floor@vumc.nl
authors.forename: Karijn
authors.initials: K
authors.lastname: Floor
authors.forename: Tuva
authors.initials: T
authors.lastname: Barøy
authors.forename: Doriana
authors.initials: D
authors.lastname: Misceo
authors.forename: Oivind J
authors.initials: OJ
authors.lastname: Kanavin
authors.forename: Madeleine
authors.initials: M
authors.lastname: Fannemel
authors.forename: Eirik
authors.initials: E
authors.lastname: Frengen
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11; D019066:Facies; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D010641:Phenotype