{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:22:16Z","timestamp":1747146136210,"version":"3.40.5"},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T00:00:00Z","timestamp":1693353600000},"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":["23ek0109549"],"award-info":[{"award-number":["23ek0109549"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["23 K14966"],"award-info":[{"award-number":["23 K14966"]}],"id":[{"id":"10.13039\/501100001691","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":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The gene <jats:italic>CDH11<\/jats:italic> encodes cadherin\u201011, a Type II cadherin superfamily member that contains five extracellular cadherin (EC) domains. Cadherin\u201011 undergoes <jats:italic>trans<\/jats:italic>\u2010dimerization via the EC1 domain to generate cadherin complexes. Compound heterozygous and homozygous loss\u2010of\u2010function <jats:italic>CDH11<\/jats:italic> variants are observed in Elsahy\u2013Waters syndrome (EWS), which shows characteristic craniofacial features, vertebral abnormalities, cutaneous syndactyly in 2\u20133 digits, genitourinary anomalies, and intellectual disability. Heterozygous <jats:italic>CDH11<\/jats:italic> variants can cause Teebi hypertelorism syndrome (THS), which features widely spaced eyes and hypospadias. We report a THS patient with a novel <jats:italic>CDH11<\/jats:italic> variant involving the EC1 domain. The patient was a 10\u2010month\u2010old male with normal developmental milestones, but had widely spaced eyes, strabismus, hypospadias, shawl scrotum, broad thumbs (right bifid thumb in x\u2010ray), polysyndactyly of the left fourth finger, and cutaneous syndactyly of left third\/fourth fingers. Exome sequencing identified a de novo heterozygous <jats:italic>CDH11<\/jats:italic> variant (NM_001797.4:c.229C\u2009&gt;\u2009T [p.Leu77Phe] NC_000016.9:g.64998856G\u2009&gt;\u2009A). Clinical features were consistent with previously reported THS patients, but polysyndactyly, broad thumb, and cutaneous syndactyly overlapped phenotypic features of EWS. THS and EWS may represent a spectrum of <jats:italic>CDH11<\/jats:italic>\u2010related disorders. Residue Leu77 in this novel <jats:italic>CDH11<\/jats:italic> variant lines a large hydrophobic pocket where side chains of the partner cadherin\u201011 insert to <jats:italic>trans<\/jats:italic>\u2010dimerize, suggesting that the cadherin\u201011 structure might be altered in this variant.<\/jats:p>","DOI":"10.1002\/ajmg.a.63386","type":"journal-article","created":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T11:59:30Z","timestamp":1693396770000},"page":"94-99","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A Japanese patient with <scp>Teebi<\/scp> hypertelorism syndrome and a novel <scp><i>CDH11<\/i> EC1<\/scp> domain variant"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8420-6070","authenticated-orcid":false,"given":"Yukiko","family":"Kuroda","sequence":"first","affiliation":[{"name":"Division of Medical Genetics Kanagawa Children's Medical Center  Yokohama Kanagawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoko","family":"Saito","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Kanagawa Children's Medical Center  Yokohama Kanagawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yumi","family":"Enomoto","sequence":"additional","affiliation":[{"name":"Clinical Research Institute Kanagawa Children's Medical Center  Yokohama Kanagawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takuya","family":"Naruto","sequence":"additional","affiliation":[{"name":"Clinical Research Institute Kanagawa Children's Medical Center  Yokohama Kanagawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6817-7748","authenticated-orcid":false,"given":"Kenji","family":"Kurosawa","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Kanagawa Children's Medical Center  Yokohama Kanagawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,8,30]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0085717"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.11.013"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.07.003"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40379"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38568"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13530"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-021-02274-3"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62423"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2005.12.046"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/78119"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38495"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2021-107769"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63386","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T07:33:25Z","timestamp":1706513605000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63386"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,30]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,1]]}},"alternative-id":["10.1002\/ajmg.a.63386"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63386","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2023,8,30]]},"assertion":[{"value":"2023-03-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-18","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-30","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}