{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:55:32Z","timestamp":1791298532549,"version":"4.1.0"},"reference-count":49,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2007,3,7]],"date-time":"2007-03-07T00:00:00Z","timestamp":1173225600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2007,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Craniosynostosis, the premature fusion of one or more cranial sutures, affects 1 in 2,500 live births. Isolated single\u2010suture fusion is most prevalent, with sagittal synostosis occurring in 1\/5,000 live births. The etiology of isolated (nonsyndromic) single\u2010suture craniosynostosis is largely unknown. In syndromic craniosynostosis, there is a highly nonrandom pattern of causative autosomal dominant mutations involving <jats:italic>TWIST1<\/jats:italic> and <jats:italic>fibroblast growth factor receptors<\/jats:italic> (<jats:italic>FGFRs<\/jats:italic>). Prior to our study, there were no published <jats:italic>TWIST1<\/jats:italic> mutations in the anti\u2010osteogenic C\u2010terminus, recently coined the TWIST Box, which binds and inhibits RUNX2 transactivation. RUNX2 is the principal master switch for osteogenesis. We performed mutational analysis on 164 infants with isolated, single\u2010suture craniosynostosis for mutations in <jats:italic>TWIST1<\/jats:italic>, the IgIIIa exon of <jats:italic>FGFR1<\/jats:italic>, the IgIIIa and IgIIIc exons of <jats:italic>FGFR2<\/jats:italic>, and the Pro250Arg site of <jats:italic>FGFR3<\/jats:italic>. We identified two patients with novel TWIST Box mutations: one with isolated sagittal synostosis and one with isolated coronal synostosis. Kress et al. [<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#bib32\">2006<\/jats:ext-link>] reported a TWIST Box \u201cnondisease\u2010causing polymorphism\u201d in a patient with isolated sagittal synostosis. However, compelling evidence suggests that their and our sequence alterations are pathogenic: (1) a mouse with a mutation of the same residue as our sagittal synostosis patient developed sagittal synostosis, (2) mutation of the same residue precluded TWIST1 interaction with RUNX2, (3) each mutation involved nonconservative amino acid substitutions in highly conserved residues across species, and (4) control chromosomes lacked TWIST Box sequence alterations. We suggest that genetic testing of patients with isolated sagittal or coronal synostosis should include <jats:italic>TWIST1<\/jats:italic> mutational analysis. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31630","type":"journal-article","created":{"date-parts":[[2007,3,7]],"date-time":"2007-03-07T22:37:33Z","timestamp":1173307053000},"page":"678-686","source":"Crossref","is-referenced-by-count":90,"title":["Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations"],"prefix":"10.1002","volume":"143A","author":[{"given":"Marianne L.","family":"Seto","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne 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