{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,20]],"date-time":"2026-06-20T21:31:23Z","timestamp":1781991083157,"version":"3.54.5"},"reference-count":15,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2020,9,1]],"date-time":"2020-09-01T00:00:00Z","timestamp":1598918400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["X01HL140518\u201001"],"award-info":[{"award-number":["X01HL140518\u201001"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"publisher","award":["R01DE022438"],"award-info":[{"award-number":["R01DE022438"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"publisher","award":["RC1DE020270"],"award-info":[{"award-number":["RC1DE020270"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Craniofacial microsomia (CFM), also known as the oculo\u2010auriculo\u2010vertebral spectrum, comprises a variable phenotype with the most common features including microtia and mandibular hypoplasia on one or both sides, in addition to lateral oral clefts, epibulbar dermoids, cardiac, vertebral, and renal abnormalities. The etiology of CFM is largely unknown. The <jats:italic>MYT1<\/jats:italic> gene has been reported as a candidate based in mutations found in three unrelated individuals. Additional patients with mutations in this gene are required to establish its causality. We present two individuals with CFM that have rare variants in <jats:italic>MYT1<\/jats:italic> contributing to better understand the genotype and phenotype associated with mutations in this gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods\/Results<\/jats:title><jats:p>We conducted genetic analysis using whole\u2010exome and \u2010genome sequencing in 128 trios with CFM. Two novel <jats:italic>MYT1<\/jats:italic> mutations were identified in two participants. Sanger sequencing was used to confirm these mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We identified two additional individuals with CFM who carry rare variants in <jats:italic>MYT1<\/jats:italic>, further supporting the presumptive role of this gene in the CFM spectrum.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1401","type":"journal-article","created":{"date-parts":[[2020,9,1]],"date-time":"2020-09-01T20:25:57Z","timestamp":1598991957000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["<i>MYT1<\/i> role in the microtia\u2010craniofacial microsomia spectrum"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6059-7708","authenticated-orcid":false,"given":"Daniela V.","family":"Luquetti","sequence":"first","affiliation":[{"name":"University of Washington School of Medicine Seattle WA USA"},{"name":"Seattle Children's Research Institute Seattle WA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carrie L.","family":"Heike","sequence":"additional","affiliation":[{"name":"University of Washington School of Medicine Seattle WA USA"},{"name":"Seattle Children's Research Institute Seattle WA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ignacio","family":"Zarante","sequence":"additional","affiliation":[{"name":"Human Genomics Institute Pontificia Universidad Javeriana Bogot\u00e1 Colombia"},{"name":"Hospital Universitario San Ignacio Bogot\u00e1 Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew E.","family":"Timms","sequence":"additional","affiliation":[{"name":"Seattle Children's Research Institute Seattle WA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonas","family":"Gustafson","sequence":"additional","affiliation":[{"name":"Seattle Children's Research Institute Seattle WA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harry","family":"Pachajoa","sequence":"additional","affiliation":[{"name":"Universidad Icesi Cali Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gloria L.","family":"Porras\u2010Hurtado","sequence":"additional","affiliation":[{"name":"Clinica Comfamiliar Risaralda Pereira Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Ayala\u2010Ramirez","sequence":"additional","affiliation":[{"name":"Human Genomics Institute Pontificia Universidad Javeriana Bogot\u00e1 Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milagros M.","family":"Duenas\u2010Roque","sequence":"additional","affiliation":[{"name":"Hospital Edgardo Rebagliati Martins Lima Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia","family":"Jimenez","sequence":"additional","affiliation":[{"name":"Pontificia Universidad Javeriana Cali Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lina M.","family":"Ibanez","sequence":"additional","affiliation":[{"name":"Pontificia Universidad Javeriana Cali Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Hurtado\u2010Villa","sequence":"additional","affiliation":[{"name":"Pontificia Universidad Javeriana Cali Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,9]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102014\u2010102476"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2017.101"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.20004"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkr1240"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/oso\/9780195118612.001.0001"},{"key":"e_1_2_9_7_1","volume-title":"GeneReviews","author":"Heike C. L.","year":"2009"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11248\u2010010\u20109470\u2010x"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.133.10.997"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102016\u2010103774"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320150207"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroscience.2005.07.053"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2016.09.024"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e328323a7dd"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mod.2007.08.004"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.959"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1401","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1401","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1401","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,4]],"date-time":"2024-07-04T06:47:10Z","timestamp":1720075630000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1401"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9]]},"references-count":15,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2020,10]]}},"alternative-id":["10.1002\/mgg3.1401"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1401","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,9]]},"assertion":[{"value":"2020-06-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-06-23","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-09-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1401"}}