title: RORB gene and 9q21.13 microdeletion: report on a patient with epilepsy and mild intellectual disability.
abstract: Copy number variants represent an important cause of neurodevelopmental disorders including epilepsy, which is genetically determined in 40% of cases. Epilepsy is caused by chromosomal imbalances or mutations in genes encoding subunits of neuronal voltage- or ligand-gated ion channels or proteins related to neuronal maturation and migration during embryonic development. Here, we report on a girl with mild intellectual disability and idiopathic partial epilepsy. Array-CGH analysis showed a 1.040 Mb de novo interstitial deletion at 9q21.13 band encompassing only four genes, namely RORB, TRPM6, NMRK1, OSTF1, two open reading frames (C9orf40, C9orf41), and a microRNA (MIR548H3). RORB encodes a nuclear receptor highly expressed in the retina, cortex, and thalamus. We hypothesize its role in producing the phenotype of our patient and compare this case with other ones previously reported in the literature to better identify a genotype-phenotype correlation.
authors.affiliation: Centro Epilessie, UO Neuropsichiatria Infantile, Istituto Giannina Gaslini, Genova, Italy.
authors.forename: Maria Giuseppina
authors.initials: MG
authors.lastname: Baglietto
authors.affiliation: Laboratorio di Fisiopatologia dell'Uremia, Istituto Giannina Gaslini, Genova, Italy.
authors.forename: Gianluca
authors.initials: G
authors.lastname: Caridi
authors.affiliation: Laboratorio di Citogenetica, Istituto Giannina Gaslini, Largo G. Gaslini 5, I-16148 Genova, Italy.
authors.forename: Giorgio
authors.initials: G
authors.lastname: Gimelli
authors.affiliation: Centro Epilessie, UO Neuropsichiatria Infantile, Istituto Giannina Gaslini, Genova, Italy.
authors.forename: Margherita
authors.initials: M
authors.lastname: Mancardi
authors.affiliation: Centro Epilessie, UO Neuropsichiatria Infantile, Istituto Giannina Gaslini, Genova, Italy.
authors.forename: Giulia
authors.initials: G
authors.lastname: Prato
authors.affiliation: Laboratorio di Citogenetica, Istituto Giannina Gaslini, Largo G. Gaslini 5, I-16148 Genova, Italy.
authors.forename: Patrizia
authors.initials: P
authors.lastname: Ronchetto
authors.affiliation: Laboratorio di Citogenetica, Istituto Giannina Gaslini, Largo G. Gaslini 5, I-16148 Genova, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Cuoco
authors.affiliation: Laboratorio di Citogenetica, Istituto Giannina Gaslini, Largo G. Gaslini 5, I-16148 Genova, Italy. Electronic address: eli.tassano@gmail.com.
authors.forename: Elisa
authors.initials: E
authors.lastname: Tassano
mesh_terms: D002648:Child; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics; D004827:Epilepsy / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D057095:Nuclear Receptor Subfamily 1, Group F, Member 2 / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D057095:Nuclear Receptor Subfamily 1, Group F, Member 2; C539740:RORB protein, human
keywords: 9q21.13 Microdeletion; Array-CGH; Copy number variants; Epilepsy; Mild intellectual disability; RORB gene