{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T11:04:38Z","timestamp":1786964678400,"version":"build-2736575974"},"reference-count":9,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2014,5,5]],"date-time":"2014-05-05T00:00:00Z","timestamp":1399248000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Universit\u00ef\u00bf\u00bdt zu L\u00ef\u00bf\u00bdbeck","award":["SPP-Medizinische Genetik"],"award-info":[{"award-number":["SPP-Medizinische Genetik"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,8]]},"abstract":"<jats:sec><jats:label\/><jats:p>In patients with genetically heterogeneous disorders such as intellectual disability or epilepsy, exome sequencing is a powerful tool to elucidate the underlying genetic cause. Homozygous and compound heterozygous mutations in <jats:italic>C12orf57<\/jats:italic> have recently been described to cause an autosomal recessive syndromic form of intellectual disability, including agenesis\/hypoplasia of the corpus callosum, optic coloboma, and intractable seizures. Here, we report on two siblings from nonconsanguineous parents harboring two compound heterozygous loss\u2010of\u2010function mutations in <jats:italic>C12orf57<\/jats:italic> identified by exome sequencing, including a novel nonsense mutation, and review the patients described in the literature. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36592","type":"journal-article","created":{"date-parts":[[2014,5,5]],"date-time":"2014-05-05T22:39:57Z","timestamp":1399329597000},"page":"1976-1980","source":"Crossref","is-referenced-by-count":13,"title":["Exome sequencing identifies compound heterozygous mutations in <i>C12orf57<\/i> in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures"],"prefix":"10.1002","volume":"164","author":[{"given":"Konrad","family":"Platzer","sequence":"first","affiliation":[{"name":"Institut f\u00fcr Humangenetik Universit\u00e4t zu L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina","family":"H\u00fcning","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Humangenetik Universit\u00e4t zu L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolin","family":"Obieglo","sequence":"additional","affiliation":[{"name":"Sektion f\u00fcr Funktionelle Genetik am Institut f\u00fcr Humangenetik Universit\u00e4t zu L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Schwarzmayr","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Helmholtz Zentrum M\u00fcnchen German Research Center for Environmental Health Neuherberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rainer","family":"Gabriel","sequence":"additional","affiliation":[{"name":"Praxis f\u00fcr Neurop\u00e4diatrie L\u00fcneburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim M.","family":"Strom","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Helmholtz Zentrum M\u00fcnchen German Research Center for Environmental Health Neuherberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Gillessen\u2010Kaesbach","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Humangenetik Universit\u00e4t zu L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank J.","family":"Kaiser","sequence":"additional","affiliation":[{"name":"Sektion f\u00fcr Funktionelle Genetik am Institut f\u00fcr Humangenetik Universit\u00e4t zu L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,5,5]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.02.004"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200009030-00014"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31855"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature10423"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200995"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35850"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200307000-00005"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199607000-00007"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.01.008"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36592","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36592","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T05:30:27Z","timestamp":1696570227000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36592"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,5,5]]},"references-count":9,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2014,8]]}},"alternative-id":["10.1002\/ajmg.a.36592"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36592","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,5,5]]}}}