{ "dc.contributor.author": "Viñas Jornet, Marina" , "dc.contributor.author": "Esteba Castillo, Susanna" , "dc.contributor.author": "Gabau, Elisabeth" , "dc.contributor.author": "Ribas Vidal, Núria" , "dc.contributor.author": "Baena, Neus" , "dc.contributor.author": "San Molina, Juan Lorenzo" , "dc.contributor.author": "Ruiz, Anna" , "dc.contributor.author": "Coll, Maria Dolors" , "dc.contributor.author": "Novell, Ramon" , "dc.contributor.author": "Guitart, Miriam" , "dc.date.accessioned": "2014-10-21T06:31:09Z" , "dc.date.available": "2014-10-21T06:31:10Z" , "dc.date.issued": "2014" , "dc.identifier.issn": "1617-4615" , "dc.identifier.uri": "http://hdl.handle.net/10256/9566" , "dc.description.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" , "dc.format.extent": "10 p." , "dc.format.mimetype": "application/pdf" , "dc.language.iso": "eng" , "dc.publisher": "Springer Verlag" , "dc.relation.isformatof": "Reproducció digital del document publicat a: http://dx.doi.org/10.1002/mgg3.105" , "dc.relation.ispartof": "© Molecular Genetics and Genomics, 2014 (August 18), 10 p." , "dc.relation.ispartofseries": "Articles publicats (D-CM)" , "dc.rights": "Tots els drets reservats" , "dc.source": "Viñas Jornet, Marina Esteba Castillo, Susanna Gabau, Elisabeth Ribas Vidal, Núria Baena, Neus San Molina, Juan Lorenzo Ruiz, Anna Coll, Maria Dolors Novell, Ramon Guitart, Miriam 2014 A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion Molecular Genetics and Genomics" , "dc.subject": "Trastorns d'ansietat" , "dc.subject": "Anxiety disorders" , "dc.subject": "Malalts mentals" , "dc.subject": "Mentally ill" , "dc.title": "A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion" , "dc.type": "info:eu-repo/semantics/article" , "dc.rights.accessRights": "info:eu-repo/semantics/openAccess" , "dc.type.version": "info:eu-repo/semantics/publishedVersion" , "dc.identifier.doi": "http://dx.doi.org/10.1002/mgg3.105" , "dc.identifier.idgrec": "021802" , "dc.identifier.eissn": "1617-4623" }