{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T13:34:58Z","timestamp":1767706498752,"version":"3.40.5"},"reference-count":15,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2018,11,18]],"date-time":"2018-11-18T00:00:00Z","timestamp":1542499200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["Initiative on rare and undiagnosed diseases","[JP17ek0109151]"],"award-info":[{"award-number":["Initiative on rare and undiagnosed diseases","[JP17ek0109151]"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001697","name":"Keio University","doi-asserted-by":"publisher","award":["Keio Gijuku Academic Development Funds"],"award-info":[{"award-number":["Keio Gijuku Academic Development Funds"]}],"id":[{"id":"10.13039\/501100001697","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,12]]},"abstract":"The TWIST family is a group of highly conserved basic helix\u2013loop\u2013helix transcription factors. In humans, TWIST1<\/jats:italic> haploinsufficiency causes Saethre\u2013Chotzen syndrome, which is characterized by craniosynostosis. Heterozygous localized TWIST1<\/jats:italic> and TWIST2<\/jats:italic> basic domain substitutions exert antimorphic effects to cause Sweeney\u2013Cox syndrome, Barber\u2013Say syndrome, and ablepharon\u2010macrostomia syndrome, respectively. Sweeney\u2013Cox syndrome, Barber\u2013Say syndrome, and ablepharon\u2010macrostomia syndrome share the facial features of ablepharon, hypertelorism, underdevelopment of the eyelids, and cheek pads adjacent to the corners of the mouth. Existence of phenotypic overlap between Saethre\u2013Chotzen syndrome and Sweeney\u2013Cox syndrome remains unknown. Herein, we document a male infant with the distinctive facial features of ablepharon, hypertelorism, cheek pads adjacent to the corners of the mouth, and bilateral coronal suture craniosynostosis who had a de novo heterozygous mutation in the basic domain of TWIST1<\/jats:italic>, that is, c.351C>G p.Glu117Asp. The pathogenicity of this variant was supported by in silico and in vivo evidence. Our review showed that Sweeney\u2013Cox syndrome appears to share many characteristics with Barber\u2013Say syndrome and ablepharon\u2010macrostomia syndrome except for craniosynostosis, which is a cardinal feature of Saethre\u2013Chotzen syndrome. An amino acid substitution from Glu117 to Asp, both of which are the sole members of negatively charged amino acids, resulted in a prototypic Sweeney\u2013Cox syndrome phenotype. This suggests that any amino acid substitutions at Glu117 would likely lead to the Sweeney\u2013Cox syndrome phenotype or lethality. The present observation suggests that a localized TWIST1<\/jats:italic> basic domain substitution, that is, p.Glu117Asp, in TWIST1<\/jats:italic> may exert a mild antimorphic effect similar to that of haploinsufficiency, leading to craniosynostosis and ablepharon.<\/jats:p>","DOI":"10.1002\/ajmg.a.40525","type":"journal-article","created":{"date-parts":[[2018,11,19]],"date-time":"2018-11-19T05:28:59Z","timestamp":1542605339000},"page":"2777-2780","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Ablepharon and craniosynostosis in a patient with a localized TWIST1<\/i> basic domain substitution"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7311-4135","authenticated-orcid":false,"given":"Toshiki","family":"Takenouchi","sequence":"first","affiliation":[{"name":"Department of Pediatrics Keio University School of Medicine Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshiaki","family":"Sakamoto","sequence":"additional","affiliation":[{"name":"Plastic and Reconstructive Surgery Keio University School of Medicine Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hironori","family":"Sato","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Chiba University Chiba City Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hisato","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Keio University School of Medicine Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1497-7686","authenticated-orcid":false,"given":"Tomoko","family":"Uehara","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Keio University School of Medicine Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshiteru","family":"Ohsone","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Chiba University Chiba City Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenjiro","family":"Kosaki","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Keio University School of Medicine Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,11,18]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.272.5267.1481"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(01)00893-9"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37757"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-42"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-36"},{"volume-title":"Smith's recognizable patterns of human malformation","year":"2013","author":"Jones K. 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