{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T20:53:55Z","timestamp":1789764835339,"version":"4.0.1"},"reference-count":15,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2016,5,3]],"date-time":"2016-05-03T00:00:00Z","timestamp":1462233600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["1U54HG006542"],"award-info":[{"award-number":["1U54HG006542"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,7]]},"abstract":"<jats:sec><jats:label\/><jats:p>Nasopalpebral lipoma\u2010coloboma syndrome (NPLCS, OMIM%167730) is an uncommon malformation entity with autosomal dominant inheritance characterized by the combination of nasopalpebral lipoma, colobomas in upper and lower eyelids, telecanthus, and maxillary hypoplasia. To date, no genetic defects have been associated with familial or sporadic NPLCS cases and the etiology of the disease remains unknown. In this work, the results of whole exome sequencing in a sporadic NPLCS patient are presented. Exome sequencing identified a de novo heterozygous frameshift dinucleotide insertion c.6245_6246 insTT (p.His2082fs*67) in <jats:italic>ZDBF2<\/jats:italic> (<jats:italic>zinc finger, DBF\u2010type containing 2<\/jats:italic>), a gene located at 2q33.3. This variant was absent in parental DNA, in a set of 300 ethnically matched controls, and in public exome variant databases. This is the first genetic variant identified in a NPLCS patient and evidence supporting the pathogenicity of the identified mutation is discussed. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37683","type":"journal-article","created":{"date-parts":[[2016,5,3]],"date-time":"2016-05-03T11:10:16Z","timestamp":1462273816000},"page":"1934-1937","source":"Crossref","is-referenced-by-count":4,"title":["Exome sequencing identifies a de novo frameshift mutation in the imprinted gene <i>ZDBF2<\/i> in a sporadic patient with Nasopalpebral Lipoma\u2010coloboma syndrome"],"prefix":"10.1002","volume":"170","author":[{"given":"Oscar F.","family":"Chac\u00f3n\u2010Camacho","sequence":"first","affiliation":[{"name":"Department of Genetics\u2010Research Unit Institute of Ophthalmology \u201cConde de Valenciana\u201d Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nara","family":"Sobreira","sequence":"additional","affiliation":[{"name":"Institute of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"You","sequence":"additional","affiliation":[{"name":"Institute of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raul E.","family":"Pi\u00f1a\u2010Aguilar","sequence":"additional","affiliation":[{"name":"Division of Genomic Medicine National Medical Center \u201c20 de Noviembre\u201d ISSSTE Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanessa","family":"Villegas\u2010Ruiz","sequence":"additional","affiliation":[{"name":"Department of Genetics\u2010Research Unit Institute of Ophthalmology \u201cConde de Valenciana\u201d Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan C.","family":"Zenteno","sequence":"additional","affiliation":[{"name":"Department of Genetics\u2010Research Unit Institute of Ophthalmology \u201cConde de Valenciana\u201d Mexico City Mexico"},{"name":"Faculty of Medicine Department of Biochemistry National Autonomous University of Mexico (UNAM) Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,5,3]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1991.tb03106.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.4103\/0301-4738.83615"},{"key":"e_1_2_6_4_1","first-page":"1699","article-title":"Nasopalpebral lipoma\u2010coloboma","volume":"118","author":"Bock\u2010Kunz AL","year":"2000","journal-title":"Arch Ophthalmol"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35916"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.806"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.232058.113"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2008.12.012"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2012.01.059"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp352"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00238-003-0523-8"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320110404"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2014.6511"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22769"}],"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.37683","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37683","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T23:19:57Z","timestamp":1696547997000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37683"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,5,3]]},"references-count":15,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2016,7]]}},"alternative-id":["10.1002\/ajmg.a.37683"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37683","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,5,3]]}}}