{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T08:24:01Z","timestamp":1791275041494,"version":"4.1.0"},"reference-count":58,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2011,7,7]],"date-time":"2011-07-07T00:00:00Z","timestamp":1309996800000},"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 A"],"published-print":{"date-parts":[[2011,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Agenesis of the corpus callosum (AgCC) is a congenital brain malformation that occurs in approximately 1:1,000\u20131:6,000 births. Several syndromes associated with AgCC have been traced to single gene mutations; however, the majority of AgCC causes remain unidentified. We investigated a mother and two children who all shared complete AgCC and a chromosomal deletion at 1q42. We fine mapped this deletion and show that it includes Disrupted\u2010in\u2010Schizophrenia 1 (\n                    <jats:italic>DISC1<\/jats:italic>\n                    ), a gene implicated in schizophrenia and other psychiatric disorders. Furthermore, we report a de novo chromosomal deletion at 1q42.13 to q44, which includes\n                    <jats:italic>DISC1<\/jats:italic>\n                    , in another individual with AgCC. We resequenced\n                    <jats:italic>DISC1<\/jats:italic>\n                    in a cohort of 144 well\u2010characterized AgCC individuals and identified 20 sequence changes, of which 4 are rare potentially pathogenic variants. Two of these variants were undetected in 768 control chromosomes. One of these is a splice site mutation at the 5\u2032 boundary of exon 11 that dramatically reduces full\u2010length mRNA expression of\n                    <jats:italic>DISC1<\/jats:italic>\n                    , but not of shorter forms. We investigated the developmental expression of mouse\n                    <jats:italic>DISC1<\/jats:italic>\n                    and find that it is highly expressed in the embryonic corpus callosum at a critical time for callosal formation. Taken together our results suggest a significant role for\n                    <jats:italic>DISC1<\/jats:italic>\n                    in corpus callosum development. \u00a9 2011 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.34081","type":"journal-article","created":{"date-parts":[[2011,7,7]],"date-time":"2011-07-07T15:56:06Z","timestamp":1310054166000},"page":"1865-1876","source":"Crossref","is-referenced-by-count":39,"title":["Genetic and functional analyses identify\n                    <i>DISC1<\/i>\n                    as a novel callosal agenesis candidate gene"],"prefix":"10.1002","volume":"155","author":[{"given":"Nathan","family":"Osbun","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiang","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary 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