title: 17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome.
abstract: The widespread use of Array Comparative Genomic Hybridization (aCGH) technology has enabled the identification of several syndromes associated with copy number variants (CNVs) including the 17q21.31 microdeletion. The 17q21.31 microdeletion syndrome, also known as Koolen-de Vries syndrome, was first described in 2006 in individuals with intellectual disabilities and organ abnormalities. We report the clinical, instrumental, cytogenetic and molecular investigations of a boy admitted for epilepsy and intellectual disabilities. We carried out detailed analysis of the clinical phenotype of this patient and investigated the genetic basis by using aCGH. We identified a de novo microdeletion on chromosome 17q21.31, compatible with Koolen-de Vries syndrome. Our case shares some of the typical characteristics of the syndrome already described by other authors: delayed psychomotor development, primarily affecting the expressive language, dysmorphic facial features, and epilepsy. However the clinical outcome was not severe as the intellectual disabilities were moderate with good adaptive and functional behaviour. Epilepsy was easily controlled by a single drug, and he never needed surgery for organ abnormalities.
authors.affiliation: Department of Mental Health, Physical and Preventive Medicine, Clinic of Child and Adolescent Neuropsychiatry, Second University of Naples, Naples, Italy. Electronic address: pia.bernardo84@gmail.com.
authors.forename: Pia
authors.initials: P
authors.lastname: Bernardo
authors.affiliation: Laboratory of Neurogenetic, Pediatric Neurology and Muscular Diseases Unit, "G. Gaslini" Institute, Genoa, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Madia
authors.affiliation: Epilepsy Centre, Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
authors.forename: Lia
authors.initials: L
authors.lastname: Santulli
authors.affiliation: Epilepsy Centre, Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
authors.forename: Luigi
authors.initials: L
authors.lastname: Del Gaudio
authors.affiliation: Epilepsy Centre, Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
authors.forename: Carmela
authors.initials: C
authors.lastname: Caccavale
authors.affiliation: Laboratory of Neurogenetic, Pediatric Neurology and Muscular Diseases Unit, "G. Gaslini" Institute, Genoa, Italy.
authors.forename: Federico
authors.initials: F
authors.lastname: Zara
authors.affiliation: Laboratory of Neurogenetic, Pediatric Neurology and Muscular Diseases Unit, "G. Gaslini" Institute, Genoa, Italy.
authors.forename: Monica
authors.initials: M
authors.lastname: Traverso
authors.affiliation: Department of Medical, Surgical, Neurological, Metabolic and Aging Sciences, Second University of Naples, Naples, Italy.
authors.forename: Mario
authors.initials: M
authors.lastname: Cirillo
authors.affiliation: Epilepsy Centre, Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
authors.forename: Salvatore
authors.initials: S
authors.lastname: Striano
authors.affiliation: Epilepsy Centre, Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
authors.forename: Antonietta
authors.initials: A
authors.lastname: Coppola
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology*; D000293:Adolescent; D001921:Brain / Q000000981:diagnostic imaging / Q000503:physiopathology; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D004569:Electroencephalography; D004827:Epilepsy / Q000188:drug therapy / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D005145:Face / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics; D010290:Parents; D010641:Phenotype; D018019:Receptors, Corticotropin-Releasing Hormone / Q000235:genetics; D000099052:CRF Receptor, Type 1
chemical_list: C574033:NSL1 protein, human; D009687:Nuclear Proteins; D018019:Receptors, Corticotropin-Releasing Hormone; D000099052:CRF Receptor, Type 1
keywords: 17q21.31 microdeletion; Array-CGH; Behavioural disorders; Copy number variation; Epilepsy; Intellectual disability