title: A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion.
abstract: Deletions in the 2p16.3 region that includes the neurexin (NRXN1) gene are associated with intellectual disability and various psychiatric disorders, in particular, autism and schizophrenia. We present three unrelated patients, two adults and one child, in whom we identified an intragenic 2p16.3 deletion within the NRXN1 gene using an oligonucleotide comparative genomic hybridization array. The three patients presented dual diagnosis that consisted of mild intellectual disability and autism and bipolar disorder. Also, they all shared a dysmorphic phenotype characterized by a long face, deep set eyes, and prominent premaxilla. Genetic analysis of family members showed two inherited deletions. A comprehensive neuropsychological examination of the 2p16.3 deletion carriers revealed the same phenotype, characterized by anxiety disorder, borderline intelligence, and dysexecutive syndrome. The cognitive pattern of dysexecutive syndrome with poor working memory and reduced attention switching, mental flexibility, and verbal fluency was the same than those of the adult probands. We suggest that in addition to intellectual disability and psychiatric disease, NRXN1 deletion is a risk factor for a characteristic cognitive and dysmorphic profile. The new cognitive phenotype found in the 2p16.3 deletion carriers suggests that 2p16.3 deletions might have a wide variable expressivity instead of incomplete penetrance.
authors.affiliation: Laboratori de Genètica, UDIAT-Centre Diagnòstic, Corporació Sanitària Parc Taulí, Institut Universitari Parc Tauli-UAB Sabadell, Spain ; Unitat de Biologia Cellular, Facultat de Biociències, Universitat Autònoma de Barcelona Bellaterra, Spain.
authors.forename: Marina
authors.initials: M
authors.lastname: Viñas-Jornet
authors.affiliation: Servei Especialitzat de Salut Mental i Discapacitat Intellectual, Institut Asistència Sanitària (IAS), Parc Hospitalari Martí i Julià Girona, Spain.
authors.forename: Susanna
authors.initials: S
authors.lastname: Esteba-Castillo
authors.affiliation: Laboratori de Genètica, UDIAT-Centre Diagnòstic, Corporació Sanitària Parc Taulí, Institut Universitari Parc Tauli-UAB Sabadell, Spain.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Gabau
authors.affiliation: Servei Especialitzat de Salut Mental i Discapacitat Intellectual, Institut Asistència Sanitària (IAS), Parc Hospitalari Martí i Julià Girona, Spain.
authors.forename: Núria
authors.initials: N
authors.lastname: Ribas-Vidal
authors.affiliation: Laboratori de Genètica, UDIAT-Centre Diagnòstic, Corporació Sanitària Parc Taulí, Institut Universitari Parc Tauli-UAB Sabadell, Spain.
authors.forename: Neus
authors.initials: N
authors.lastname: Baena
authors.affiliation: Servei Especialitzat de Salut Mental i Discapacitat Intellectual, Institut Asistència Sanitària (IAS), Parc Hospitalari Martí i Julià Girona, Spain.
authors.forename: Joan
authors.initials: J
authors.lastname: San
authors.affiliation: Laboratori de Genètica, UDIAT-Centre Diagnòstic, Corporació Sanitària Parc Taulí, Institut Universitari Parc Tauli-UAB Sabadell, Spain.
authors.forename: Anna
authors.initials: A
authors.lastname: Ruiz
authors.affiliation: Unitat de Biologia Cellular, Facultat de Biociències, Universitat Autònoma de Barcelona Bellaterra, Spain.
authors.forename: Maria Dolors
authors.initials: MD
authors.lastname: Coll
authors.affiliation: Servei Especialitzat de Salut Mental i Discapacitat Intellectual, Institut Asistència Sanitària (IAS), Parc Hospitalari Martí i Julià Girona, Spain.
authors.forename: Ramon
authors.initials: R
authors.lastname: Novell
authors.affiliation: Laboratori de Genètica, UDIAT-Centre Diagnòstic, Corporació Sanitària Parc Taulí, Institut Universitari Parc Tauli-UAB Sabadell, Spain.
authors.forename: Miriam
authors.initials: M
authors.lastname: Guitart
keywords: 2p16.3 deletion; anxiety disorder; dysexecutive syndrome; intellectual disability