title: 16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineation.
abstract: The short arm of chromosome 16 is one of the less stable regions of our genome, as over 10% of the euchromatic region of 16p is composed of highly complex low copy repeats that are known to be predisposed to rearrangements mediated by non-allelic homologous recombination. The 16p13.3p13.13 molecular region has been defined as the 16p duplication hotspot, and duplications of chromosome 16p13 have recently been confirmed to cause a recognizable syndrome, with CREBBP being the main phenotype-causing gene. To date, only one case report is present in the literature with a 16p13 duplication without CREBBP involvement; we describe here a second analogous case with a not previously reported 16p13.2p13.13 microduplication. This paper allows us to better delineate the clinical features of 16p13 microduplications that do not encompass CREBBP and, concurrently, to narrow the molecular region responsible for congenital heart defects in 16p duplications as well as to propose GRIN2A as a candidate gene for epilepsy.
authors.affiliation: Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milan, Italy. Electronic address: claudia.ciaccio@unimi.it.
authors.forename: Claudia
authors.initials: C
authors.lastname: Ciaccio
authors.affiliation: Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milan, Italy.
authors.forename: Arianna
authors.initials: A
authors.lastname: Tucci
authors.affiliation: Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milan, Italy.
authors.forename: Giulietta
authors.initials: G
authors.lastname: Scuvera
authors.affiliation: Foundation IRCCS Neurological Institute Carlo Besta, Milan, Italy.
authors.forename: Margherita
authors.initials: M
authors.lastname: Estienne
authors.affiliation: Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milan, Italy.
authors.forename: Susanna
authors.initials: S
authors.lastname: Esposito
authors.affiliation: Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milan, Italy.
authors.forename: Donatella
authors.initials: D
authors.lastname: Milani
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D050882:CREB-Binding Protein / Q000235:genetics*; D002648:Child; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D020440:Gene Duplication / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D016194:Receptors, N-Methyl-D-Aspartate / Q000235:genetics*
chemical_list: D050882:CREB-Binding Protein; D016194:Receptors, N-Methyl-D-Aspartate; C494363:CREBBP protein, human
keywords: 16p13 microduplication; Epilepsy; GRIN2A; Genotype-phenotype correlation