{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T05:07:18Z","timestamp":1772082438498,"version":"3.50.1"},"reference-count":44,"publisher":"Cold Spring Harbor Laboratory","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:p>Mandibulofacial dysostosis with microcephaly (MFDM) is a rare genetic disorder inherited in an autosomal dominant pattern. Major characteristics include developmental delay, craniofacial malformations such as malar and mandibular hypoplasia, and ear anomalies. Here, we report a 4.5-yr-old female patient with symptoms fitting MFDM. Using whole-genome sequencing, we identified a de novo start-codon loss (c.3G &gt; T) in the <jats:italic>EFTUD2<\/jats:italic>. We examined <jats:italic>EFTUD2<\/jats:italic> expression in the patient by RNA sequencing and observed a notable functional consequence of the variant on gene expression in the patient. We identified a novel variant for the development of MFDM in humans. To the best of our knowledge, this is the first report of a start-codon loss in <jats:italic>EFTUD2<\/jats:italic> associated with MFDM.<\/jats:p>","DOI":"10.1101\/mcs.a006206","type":"journal-article","created":{"date-parts":[[2022,6,22]],"date-time":"2022-06-22T19:05:15Z","timestamp":1655924715000},"page":"a006206","source":"Crossref","is-referenced-by-count":4,"title":["A de novo start-loss in <i>EFTUD2<\/i> associated with mandibulofacial dysostosis with microcephaly: case report"],"prefix":"10.1101","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5950-7939","authenticated-orcid":false,"given":"Muhammad","family":"Kohailan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Omayma","family":"Al-Saei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sujitha","family":"Padmajeya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Waleed","family":"Aamer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Najwa","family":"Elbashir","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ammira","family":"Al-Shabeeb Akil","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdul-Rauf","family":"Kamboh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khalid","family":"Fakhro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"246","published-online":{"date-parts":[[2022,6,22]]},"reference":[{"key":"2022062212050509000_8.4.a006206.1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bty453"},{"key":"2022062212050509000_8.4.a006206.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2022.104455"},{"key":"2022062212050509000_8.4.a006206.3","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddab051"},{"key":"2022062212050509000_8.4.a006206.4","doi-asserted-by":"publisher","DOI":"10.1186\/s13053-019-0124-6"},{"key":"2022062212050509000_8.4.a006206.5","doi-asserted-by":"publisher","DOI":"10.4161\/fly.19695"},{"key":"2022062212050509000_8.4.a006206.6","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23397"},{"key":"2022062212050509000_8.4.a006206.7","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/16.13.4092"},{"key":"2022062212050509000_8.4.a006206.8","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkz836"},{"key":"2022062212050509000_8.4.a006206.9","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddz134"},{"key":"2022062212050509000_8.4.a006206.10","unstructured":"Farrell JAR . 2014. Expanding the horizons of next generation sequencing with RUFUS. Doctor of Philosophy, The Graduate School of Arts and Sciences, Boston College."},{"key":"2022062212050509000_8.4.a006206.11","doi-asserted-by":"publisher","DOI":"10.48550\/arXiv.1207.3907"},{"key":"2022062212050509000_8.4.a006206.12","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-019-1793-z"},{"key":"2022062212050509000_8.4.a006206.13","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2653"},{"key":"2022062212050509000_8.4.a006206.14","doi-asserted-by":"publisher","DOI":"10.1097\/01.mcd.0000220603.09661.7e"},{"key":"2022062212050509000_8.4.a006206.15","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32816"},{"key":"2022062212050509000_8.4.a006206.16","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22924"},{"key":"2022062212050509000_8.4.a006206.17","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-020-01121-y"},{"key":"2022062212050509000_8.4.a006206.18","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"2022062212050509000_8.4.a006206.19","doi-asserted-by":"publisher","DOI":"10.3390\/diagnostics10050296"},{"key":"2022062212050509000_8.4.a006206.20","doi-asserted-by":"publisher","DOI":"10.1101\/gr.129684.111"},{"key":"2022062212050509000_8.4.a006206.21","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(86)90762-2"},{"key":"2022062212050509000_8.4.a006206.22","doi-asserted-by":"publisher","DOI":"10.1177\/1055665618806379"},{"key":"2022062212050509000_8.4.a006206.23","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"2022062212050509000_8.4.a006206.24","first-page":"36","article-title":"Clinical case analysis and literature review of mandibulofacial dysostosis with microcephaly syndrome","volume":"36","year":"2022","journal-title":"Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi"},{"key":"2022062212050509000_8.4.a006206.25","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-014-0550-8"},{"key":"2022062212050509000_8.4.a006206.26","doi-asserted-by":"publisher","DOI":"10.31083\/j.jin.2021.01.267"},{"key":"2022062212050509000_8.4.a006206.27","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2016.08.008"},{"key":"2022062212050509000_8.4.a006206.28","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24336"},{"key":"2022062212050509000_8.4.a006206.29","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000330"},{"key":"2022062212050509000_8.4.a006206.30","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.01.004"},{"key":"2022062212050509000_8.4.a006206.31","doi-asserted-by":"publisher","DOI":"10.1128\/EC.00090-14"},{"key":"2022062212050509000_8.4.a006206.32","doi-asserted-by":"publisher","DOI":"10.1111\/ocr.12150"},{"key":"2022062212050509000_8.4.a006206.33","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"2022062212050509000_8.4.a006206.34","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.1754"},{"key":"2022062212050509000_8.4.a006206.35","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3592"},{"key":"2022062212050509000_8.4.a006206.36","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2019-229831"},{"key":"2022062212050509000_8.4.a006206.37","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-021-03205-y"},{"key":"2022062212050509000_8.4.a006206.38","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31752"},{"key":"2022062212050509000_8.4.a006206.39","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32747"},{"key":"2022062212050509000_8.4.a006206.40","doi-asserted-by":"publisher","DOI":"10.1080\/01443615.2020.1785410"},{"key":"2022062212050509000_8.4.a006206.41","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.729628"},{"key":"2022062212050509000_8.4.a006206.42","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000027746"},{"key":"2022062212050509000_8.4.a006206.43","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000214"},{"key":"2022062212050509000_8.4.a006206.44","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0010693"}],"container-title":["Molecular Case Studies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1101\/mcs.a006206","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,6,22]],"date-time":"2022-06-22T19:05:33Z","timestamp":1655924733000},"score":1,"resource":{"primary":{"URL":"http:\/\/molecularcasestudies.cshlp.org\/lookup\/doi\/10.1101\/mcs.a006206"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6]]},"references-count":44,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2022,6,22]]},"published-print":{"date-parts":[[2022,6]]}},"alternative-id":["10.1101\/mcs.a006206"],"URL":"https:\/\/doi.org\/10.1101\/mcs.a006206","relation":{},"ISSN":["2373-2865","2373-2873"],"issn-type":[{"value":"2373-2865","type":"print"},{"value":"2373-2873","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6]]}}}