{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,20]],"date-time":"2026-03-20T01:35:19Z","timestamp":1773970519803,"version":"3.50.1"},"reference-count":29,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2002,5,1]],"date-time":"2002-05-01T00:00:00Z","timestamp":1020211200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,6,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Saethre\u2010Chotzen syndrome is a common craniosynostosis syndrome characterized by craniofacial and limb anomalies. Intragenic mutations of the <jats:italic>TWIST<\/jats:italic> gene within 7p21 have been identified as a cause of this disorder. There is phenotypic overlap with other craniosynostosis syndromes, and intragenic mutations in <jats:italic>FGFR2<\/jats:italic> (fibroblast growth factor receptor 2) and <jats:italic>FGFR3<\/jats:italic> (fibroblast growth factor receptor 3) have been demonstrated in the other conditions. Furthermore, complete gene deletions of <jats:italic>TWIST<\/jats:italic> have also been found in a significant proportion of patients with Saethre\u2010Chotzen syndrome. We investigated 11 patients clinically identified as having the Saethre\u2010Chotzen phenotype and 4 patients with craniosynostosis but without a clear diagnosis. Of the patients with the Saethre\u2010Chotzen phenotype, four were found to carry the <jats:italic>FGFR3<\/jats:italic> P250R mutation, three were found to be heterozygous for three different novel mutations in the coding region of <jats:italic>TWIST<\/jats:italic>, and two were found to have a deletion of one copy of the entire <jats:italic>TWIST<\/jats:italic> gene. Developmental delay was a distinguishing feature of the patients with deletions, compared to patients with intragenic mutations of <jats:italic>TWIST<\/jats:italic>, in agreement with the results of Johnson et al. [<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#bib15\">1998<\/jats:ext-link>: Am J Hum Genet 63:1282\u20131293]. No mutations were found for the four patients with craniosynostosis without a clear diagnosis. Therefore, 9 of our 11 patients (82%) with the Saethre\u2010Chotzen phenotype had detectable genetic changes in <jats:italic>FGFR3<\/jats:italic> or <jats:italic>TWIST<\/jats:italic>. We propose that initial screening for the <jats:italic>FGFR3<\/jats:italic> P250R mutation, followed by sequencing of <jats:italic>TWIST<\/jats:italic> and then fluorescence in situ hybridization (FISH) for deletion detection of <jats:italic>TWIST<\/jats:italic>, is sufficient to detect mutations in &gt;\u200980% of patients with the Saethre\u2010Chotzen phenotype. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10400","type":"journal-article","created":{"date-parts":[[2002,10,6]],"date-time":"2002-10-06T12:27:22Z","timestamp":1033907242000},"page":"136-143","source":"Crossref","is-referenced-by-count":73,"title":["Genetic analysis of patients with the Saethre\u2010Chotzen phenotype"],"prefix":"10.1002","volume":"110","author":[{"given":"Kathy","family":"Chun","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmad 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