A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion. Issue 6 (18th August 2014)

• Record Type: Journal Article
• Authors: Viñas‐Jornet, Marina; Esteba‐Castillo, Susanna; Gabau, Elisabeth; Ribas‐Vidal, Núria; Baena, Neus; San, Joan; Ruiz, Anna; Coll, Maria Dolors; Novell, Ramon; Guitart, Miriam
• Is Part Of: Molecular genetics & genomic medicine. Volume 2:Issue 6(2014:Nov.)
• Page Start: 512
• Page End: 521
• Publication Date: 2014-08-18
• Subjects: Medical genetics -- Periodicals; Genomics -- Periodicals; 616.042
• DOI: 10.1002/mgg3.105
• Languages: English
• ISSNs: 2324-9269

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="mgg3105-abs-0002"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Array comparative genomic hybridization identifies a 2p16.3 deletion that includes the <italic>NRXN1</italic> gene in three unrelated patients who share the same dysmorphic, cognitive, and psychiatric phenotype. The exhaustive neuropsychological assessment of the family members who carry the deletion showed an intelligence quotient from borderline to average and all present an anxiety disorder and a dysexecutive syndrome. We suggest that the <italic>NRXN1</italic> gene is a risk factor for intellectual disability and psychiatric disorder with variable expressivity. <boxed-text content-type="graphic" id="mgg3105-blkfxd-0001" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgh2ckcwj45" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>