{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T08:07:39Z","timestamp":1770883659511,"version":"3.50.1"},"reference-count":35,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2010,2,16]],"date-time":"2010-02-16T00:00:00Z","timestamp":1266278400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt B"],"published-print":{"date-parts":[[2010,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>NRXN1<\/jats:italic> is highly expressed in brain and has been shown recently to be associated with ASD, schizophrenia, cognitive and behavioral abnormalities, and alcohol and nicotine dependence. We present three families, in whom we identified intragenic rearrangements within <jats:italic>NRXN1<\/jats:italic> using a clinical targeted oligonucleotide array CGH. An \u223c380\u2009kb deletion was identified in a woman with Asperger syndrome, anxiety, and depression and in all four of her children affected with autism, anxiety, developmental delay, and speech delay but not in an unaffected child. An \u223c180\u2009kb tandem duplication was found in a patient with autistic disorder and cognitive delays, and in his mother and younger brother who have speech delay. An \u223c330\u2009kb tandem duplication was identified in a patient with autistic features. As predicted by conceptual translation, all three genomic rearrangements led to the premature truncation of <jats:italic>NRXN1<\/jats:italic>. Our data support previous observations that <jats:italic>NRXN1<\/jats:italic> may be pathogenic in a wide variety of psychiatric diseases, including autism spectrum disorder, global developmental delay, anxiety, and depression. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.b.31064","type":"journal-article","created":{"date-parts":[[2010,2,16]],"date-time":"2010-02-16T15:21:33Z","timestamp":1266333693000},"page":"983-993","source":"Crossref","is-referenced-by-count":58,"title":["Intragenic rearrangements in <i>NRXN1<\/i> in three families with autism spectrum disorder, developmental delay, and speech delay"],"prefix":"10.1002","volume":"153B","author":[{"given":"Barbara","family":"Wi\u015bniowiecka\u2010Kowalnik","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monika","family":"Nesteruk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarika U.","family":"Peters","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhilian","family":"Xia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. 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