{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T12:35:31Z","timestamp":1793190931787,"version":"4.5.0"},"reference-count":27,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2013,5,23]],"date-time":"2013-05-23T00:00:00Z","timestamp":1369267200000},"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":[[2013,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Deletions of 16p13.11 have been associated with a variety of phenotypes, and have also been found in normal individuals. We report on two unrelated patients with severe microcephaly, agenesis of the corpus callosum, scalp rugae, and a fetal brain disruption (FBD)\u2010like phenotype with inherited deletions of 16p13.11. The first patient was subsequently found on whole exome sequencing to have a nonsense mutation (p.R44X) in\n                      <jats:italic>NDE1<\/jats:italic>\n                      on the non\u2010deleted chromosome 16 homolog. We then undertook copy number studies of 16p13.11 and sequencing of\n                      <jats:italic>NDE1<\/jats:italic>\n                      in nine additional patients with a similar severe microcephaly, agenesis of the corpus callosum, and FBD\u2010like phenotype. The second patient was found to have an inherited deletion of the entire\n                      <jats:italic>NDE1<\/jats:italic>\n                      gene combined with a frameshift mutation (c.1020\u20101021het_delGA) in the non\u2010deleted\n                      <jats:italic>NDE1<\/jats:italic>\n                      . These observations broaden the phenotype seen in\n                      <jats:italic>NDE1<\/jats:italic>\n                      \u2010related microcephaly to include FBD. These data also represent the second described syndrome, after Bernard\u2010Soulier syndrome, where an autosomal recessive condition combines an inherited segmental duplication mediated deletion with a mutation in a gene within the non\u2010deleted homolog. Finally, we performed informatics analysis of the 16p13.11 gene content, and found that there are many genes within the region with evidence for role(s) in brain development. Sequencing of other candidate genes in this region in patients with deletion 16p13.11 and more severe neurophenotypes may be warranted. \u00a9 2013 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.35969","type":"journal-article","created":{"date-parts":[[2013,5,23]],"date-time":"2013-05-23T15:57:53Z","timestamp":1369324673000},"page":"1523-1530","source":"Crossref","is-referenced-by-count":77,"title":["Deletion 16p13.11 uncovers\n                    <i>NDE1<\/i>\n                    mutations on the non\u2010deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption"],"prefix":"10.1002","volume":"161","author":[{"given":"Alex R.","family":"Paciorkowski","sequence":"first","affiliation":[{"name":"Departments of Neurology, Pediatrics, and Biomedical Genetics, Center for Neural Development and Disease University of Rochester Medical Center Rochester, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kim","family":"Keppler\u2010Noreuil","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics The University of Iowa Children's Hospital Iowa City, Iowa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luther","family":"Robinson","sequence":"additional","affiliation":[{"name":"Division of Genetics SUNY at Buffalo School of Medicine and Biomedical Sciences Buffalo, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Sullivan","sequence":"additional","affiliation":[{"name":"Center for Integrative Brain Research Seattle Children's Research Institute Seattle, Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samin","family":"Sajan","sequence":"additional","affiliation":[{"name":"Center for Integrative Brain Research Seattle Children's Research Institute Seattle, Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan L.","family":"Christian","sequence":"additional","affiliation":[{"name":"Center for Integrative Brain Research Seattle Children's Research Institute Seattle, Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Polina","family":"Bukshpun","sequence":"additional","affiliation":[{"name":"Department of Neurology University of California, San Francisco San Francisco, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stacy B.","family":"Gabriel","sequence":"additional","affiliation":[{"name":"The Broad Institute of MIT and Harvard Cambridge, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph G.","family":"Gleeson","sequence":"additional","affiliation":[{"name":"Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital University of California, San Diego San Diego, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elliott H.","family":"Sherr","sequence":"additional","affiliation":[{"name":"Department of Neurology University of California, San Francisco San Francisco, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William B.","family":"Dobyns","sequence":"additional","affiliation":[{"name":"Center for Integrative Brain Research Seattle Children's Research Institute Seattle, Washington"},{"name":"Departments of Pediatrics and Neurology University of Washington Seattle, Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,5,23]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.076646"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02079071"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.04.003"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.03.019"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature09327"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.4.273"},{"key":"e_1_2_7_8_1","first-page":"763","article-title":"Identification of a patient with Bernard\u2010Soulier syndrome and a deletion in the DiGeorge\/velo\u2010cardio\u2010facial chromosomal region in 22q11.2. 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