title: 790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism.
abstract: We report a patient with a moderate mental retardation, afebrile seizure, mild dysmorphic features and type 2 diabetes mellitus with mild obesity and metabolic syndrome. Array-CGH analysis revealed a de novo 790-830 kb duplication on chromosome 17p13.1, not reported so far. Among the approximately 50 genes involved in the rearrangement, neuroligin 2 (NLGN2) and ephrin B3 (EFNB3) are candidates for the mental retardation phenotype. NLGN2 may therefore be a novel candidate gene for mental retardation or autistic spectrum disorder, joining other members of the neurexin/neuroligin network. Moreover, GLUT4, a member of the solute carrier family 2, may play a role in the patient's type 2 diabetes.
authors.affiliation: Department of Pediatrics, University of Turin, Italy.
authors.forename: Elga Fabia
authors.initials: EF
authors.lastname: Belligni
authors.forename: Eleonora
authors.initials: E
authors.lastname: Di Gregorio
authors.forename: Elisa
authors.initials: E
authors.lastname: Biamino
authors.forename: Alessandro
authors.initials: A
authors.lastname: Calcia
authors.forename: Cristina
authors.initials: C
authors.lastname: Molinatto
authors.forename: Flavia
authors.initials: F
authors.lastname: Talarico
authors.forename: Giovanni Battista
authors.initials: GB
authors.lastname: Ferrero
authors.forename: Alfredo
authors.initials: A
authors.lastname: Brusco
authors.forename: Margherita Cirillo
authors.initials: MC
authors.lastname: Silengo
mesh_terms: D000293:Adolescent; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D024821:Metabolic Syndrome / Q000235:genetics; D009030:Mosaicism; D012640:Seizures / Q000235:genetics; D014314:Trisomy / Q000235:genetics*