{"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":1772082438372,"version":"3.50.1"},"reference-count":27,"publisher":"Wiley","issue":"S1","license":[{"start":{"date-parts":[[2017,6,23]],"date-time":"2017-06-23T00:00:00Z","timestamp":1498176000000},"content-version":"vor","delay-in-days":22,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009504","name":"University of Missouri-Kansas City","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009504","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Orthod Craniofacial Res"],"published-print":{"date-parts":[[2017,6]]},"abstract":"Structured Abstract<\/jats:title>Objectives<\/jats:title>Craniofacial anomalies are complex and have an overlapping phenotype. Mandibulofacial Dysostosis<\/jats:italic> and Oculo\u2010Auriculo\u2010Vertebral Spectrum<\/jats:italic> are conditions that share common craniofacial phenotype and present a challenge in arriving at a diagnosis. In this report, we present a case of female proband who was given a differential diagnosis of Treacher Collins syndrome<\/jats:italic> or Hemifacial Microsomia<\/jats:italic> without certainty. Prior genetic testing reported negative for 22q deletion<\/jats:italic> and FGFR<\/jats:styled-content><\/jats:italic> screenings. The objective of this study was to demonstrate the critical role of whole\u2010exome sequencing in establishing a genetic diagnosis of the proband.<\/jats:p><\/jats:sec>Setting and Sample Population<\/jats:title>The participants were 14\u00bd\u2010year\u2010old affected female proband\/parent trio.<\/jats:p><\/jats:sec>Materials and Methods<\/jats:title>Proband\/parent trio were enrolled in the study. Surgical tissue sample from the proband and parental blood samples were collected and prepared for whole\u2010exome sequencing. Illumina HiSeq 2500 instrument was used for sequencing (125 nucleotide reads\/84X coverage). Analyses of variants were performed using custom\u2010developed software, RUNES<\/jats:styled-content> and VIKING<\/jats:styled-content>.<\/jats:p><\/jats:sec>Results<\/jats:title>Variant analyses following whole\u2010exome sequencing identified a heterozygous de novo pathogenic variant, c.259C>T (p.Gln87*), in EFTUD<\/jats:styled-content>2<\/jats:italic> (NM_004247.3<\/jats:ext-link>) gene in the proband. Previous studies have reported that the variants in EFTUD<\/jats:styled-content>2<\/jats:italic> gene were associated with Mandibulofacial Dysostosis with Microcephaly<\/jats:italic>.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>Patients with facial asymmetry, micrognathia, choanal atresia and microcephaly should be analyzed for variants in EFTUD<\/jats:styled-content>2<\/jats:italic> gene. Next\u2010generation sequencing techniques, such as whole\u2010exome sequencing offer great promise to improve the understanding of etiologies of sporadic genetic diseases.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ocr.12150","type":"journal-article","created":{"date-parts":[[2017,6,23]],"date-time":"2017-06-23T20:56:31Z","timestamp":1498251391000},"page":"50-56","source":"Crossref","is-referenced-by-count":15,"title":["Whole\u2010exome sequencing identified a variant in EFTUD<\/scp>2<\/i> gene in establishing a genetic diagnosis"],"prefix":"10.1111","volume":"20","author":[{"given":"S.","family":"Rengasamy Venugopalan","sequence":"first","affiliation":[{"name":"School of Dentistry University of Missouri \u2013 Kansas City Kansas City MO USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. 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