{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T07:06:36Z","timestamp":1777446396102,"version":"3.51.4"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2018,1,18]],"date-time":"2018-01-18T00:00:00Z","timestamp":1516233600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2018,2]]},"DOI":"10.1038\/s41431-017-0010-5","type":"journal-article","created":{"date-parts":[[2018,1,18]],"date-time":"2018-01-18T13:34:38Z","timestamp":1516282478000},"page":"210-219","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":47,"title":["Variants in members of the cadherin\u2013catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome"],"prefix":"10.1038","volume":"26","author":[{"given":"Anneke","family":"Kievit","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Federico","family":"Tessadori","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hannie","family":"Douben","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingrid","family":"Jordens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Madelon","family":"Maurice","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeannette","family":"Hoogeboom","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raoul","family":"Hennekam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheela","family":"Nampoothiri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H\u00fclya","family":"Kayserili","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Castori","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margo","family":"Whiteford","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Connie","family":"Motter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Melver","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Cunningham","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Hing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nancy M.","family":"Kokitsu-Nakata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Siulan","family":"Vendramini-Pittoli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Richieri-Costa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annette F.","family":"Baas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Corstiaan C.","family":"Breugem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen","family":"Duran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maarten","family":"Massink","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick W. B.","family":"Derksen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wilfred F. J.","family":"van IJcken","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leontine","family":"van Unen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernando","family":"Santos-Simarro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pablo","family":"Lapunzina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vera L.","family":"Gil-da Silva Lopes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elaine","family":"Lustosa-Mendes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Max","family":"Krall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Slavotinek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victor","family":"Martinez-Glez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeroen","family":"Bakkers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koen L. I.","family":"van Gassen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annelies","family":"de Klein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie-Jos\u00e9 H.","family":"van den Boogaard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3033-0329","authenticated-orcid":false,"given":"Gijs","family":"van Haaften","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2018,1,18]]},"reference":[{"key":"10_CR1","doi-asserted-by":"publisher","first-page":"1013","DOI":"10.1038\/gim.2017.11","volume":"19","author":"J Ghoumid","year":"2017","unstructured":"Ghoumid J, Stichelbout M, Jourdain AS, et al. Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1. Genet Med. 2017;19:1013\u201321.","journal-title":"Genet Med"},{"key":"10_CR2","doi-asserted-by":"publisher","first-page":"426","DOI":"10.1111\/j.1399-0004.1985.tb02288.x","volume":"27","author":"JE Allanson","year":"1985","unstructured":"Allanson JE, McGillivray BC. Familial clefting syndrome with ectropion and dental anomaly--without limb anomalies. Clin Genet. 1985;27:426\u20139.","journal-title":"Clin Genet"},{"key":"10_CR3","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1002\/ajmg.1320590221","volume":"59","author":"S Korula","year":"1995","unstructured":"Korula S, Wilson L, Salomonson J. Distinct craniofacial syndrome of lagophthalmia and bilateral cleft lip and palate. Am J Med Genet. 1995;59:229\u201333.","journal-title":"Am J Med Genet"},{"key":"10_CR4","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1002\/(SICI)1096-8628(19961016)65:2<109::AID-AJMG5>3.0.CO;2-N","volume":"65","author":"RJ Gorlin","year":"1996","unstructured":"Gorlin RJ, Zellweger H, Curtis MW, et al. Blepharo-cheilo-dontic (BCD) syndrome. Am J Med Genet. 1996;65:109\u201312.","journal-title":"Am J Med Genet"},{"key":"10_CR5","doi-asserted-by":"publisher","first-page":"266","DOI":"10.1002\/ajmg.a.20223","volume":"121A","author":"VL Gil da Silva Lopes","year":"2003","unstructured":"Gil da Silva Lopes VL, Guion-Almeida ML, de Oliveira Rodini ES. Blepharocheilodontic (BCD) syndrome: expanding the phenotype? Am J Med Genet A. 2003;121A:266\u201370.","journal-title":"Am J Med Genet A"},{"key":"10_CR6","doi-asserted-by":"publisher","first-page":"2757","DOI":"10.1002\/ajmg.a.32010","volume":"143A","author":"EL Freitas","year":"2007","unstructured":"Freitas EL, Martinhago CD, Ramos ES, Murray JC, Gil-da-Silva-Lopes VL. Preliminary molecular studies on blepharocheilodontic syndrome. Am J Med Genet A. 2007;143A:2757\u20139.","journal-title":"Am J Med Genet A"},{"key":"10_CR7","doi-asserted-by":"publisher","first-page":"1118","DOI":"10.1016\/j.ophtha.2016.01.023","volume":"123","author":"S Yavuzyigitoglu","year":"2016","unstructured":"Yavuzyigitoglu S, Koopmans AE, Verdijk RM, et al. Uveal Melanomas with SF3B1 Mutations: A Distinct Subclass Associated with Late-Onset Metastases. Ophthalmology. 2016;123:1118\u201328.","journal-title":"Ophthalmology"},{"key":"10_CR8","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1038\/ejhg.2014.69","volume":"23","author":"MM Haelst van","year":"2015","unstructured":"van Haelst MM, Monroe GR, Duran K, et al. Further confirmation of the MED13L haploinsufficiency syndrome. Eur J Hum Genet. 2015;23:135\u20138.","journal-title":"Eur J Hum Genet"},{"key":"10_CR9","doi-asserted-by":"publisher","first-page":"1483","DOI":"10.1038\/cdd.2016.33","volume":"23","author":"M Hornsveld","year":"2016","unstructured":"Hornsveld M, Tenhagen M, van de Ven RA, et al. Restraining FOXO3-dependent transcriptional BMF activation underpins tumour growth and metastasis of E-cadherin-negative breast cancer. Cell Death Differ. 2016;23:1483\u201392.","journal-title":"Cell Death Differ"},{"key":"10_CR10","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1038\/nature15393","volume":"526","author":"C Genomes Project","year":"2015","unstructured":"Genomes Project C, Auton A, Brooks LD, et al. A global reference for human genetic variation. Nature. 2015;526:68\u201374.","journal-title":"Nature"},{"key":"10_CR11","doi-asserted-by":"publisher","first-page":"818","DOI":"10.1038\/ng.3021","volume":"46","author":"Genome of the Netherlands C.","year":"2014","unstructured":"Genome of the Netherlands C. Whole-genome sequence variation, population structure and demographic history of the Dutch population. Nat Genet. 2014;46:818\u201325.","journal-title":"Nat Genet"},{"key":"10_CR12","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/nature19057","volume":"536","author":"M Lek","year":"2016","unstructured":"Lek M, Karczewski KJ, Minikel EV, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016;536:285\u201391.","journal-title":"Nature"},{"key":"10_CR13","doi-asserted-by":"publisher","first-page":"622","DOI":"10.1038\/nrm1699","volume":"6","author":"BM Gumbiner","year":"2005","unstructured":"Gumbiner BM. Regulation of cadherin-mediated adhesion in morphogenesis. Nat Rev Mol Cell Biol. 2005;6:622\u201334.","journal-title":"Nat Rev Mol Cell Biol"},{"key":"10_CR14","doi-asserted-by":"publisher","first-page":"118","DOI":"10.1038\/nrc1276","volume":"4","author":"U Cavallaro","year":"2004","unstructured":"Cavallaro U, Christofori G. Cell adhesion and signalling by cadherins and Ig-CAMs in cancer. Nat Rev Cancer. 2004;4:118\u201332.","journal-title":"Nat Rev Cancer"},{"key":"10_CR15","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-11-548","volume":"11","author":"H Venselaar","year":"2010","unstructured":"Venselaar H, Te Beek TA, Kuipers RK, Hekkelman ML, Vriend G. Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces. BMC Bioinformatics. 2010;11:548.","journal-title":"BMC Bioinformatics"},{"key":"10_CR16","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1016\/j.cell.2010.01.017","volume":"141","author":"N Ishiyama","year":"2010","unstructured":"Ishiyama N, Lee SH, Liu S, et al. Dynamic and static interactions between p120 catenin and E-cadherin regulate the stability of cell-cell adhesion. Cell. 2010;141:117\u201328.","journal-title":"Cell"},{"key":"10_CR17","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1001\/jamaoncol.2014.168","volume":"1","author":"S Hansford","year":"2015","unstructured":"Hansford S, Kaurah P, Li-Chang H, et al. Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond. JAMA Oncol. 2015;1:23\u201332.","journal-title":"JAMA Oncol"},{"key":"10_CR18","doi-asserted-by":"publisher","first-page":"1053","DOI":"10.1038\/bjc.2013.792","volume":"110","author":"C Petridis","year":"2014","unstructured":"Petridis C, Shinomiya I, Kohut K, et al. Germline CDH1 mutations in bilateral lobular carcinoma in situ. Br J Cancer. 2014;110:1053\u20137.","journal-title":"Br J Cancer"},{"key":"10_CR19","doi-asserted-by":"publisher","first-page":"919","DOI":"10.1093\/hmg\/dds497","volume":"22","author":"IP Vogelaar","year":"2013","unstructured":"Vogelaar IP, Figueiredo J, van Rooij IA, et al. Identification of germline mutations in the cancer predisposing gene CDH1 in patients with orofacial clefts. Hum Mol Genet. 2013;22:919\u201326.","journal-title":"Hum Mol Genet"},{"key":"10_CR20","doi-asserted-by":"publisher","first-page":"1029","DOI":"10.1002\/humu.22827","volume":"36","author":"LA Brito","year":"2015","unstructured":"Brito LA, Yamamoto GL, Melo S, et al. Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate. Hum Mutat. 2015;36:1029\u201333.","journal-title":"Hum Mutat"},{"key":"10_CR21","doi-asserted-by":"publisher","first-page":"1039","DOI":"10.1534\/genetics.114.165225","volume":"197","author":"A Bureau","year":"2014","unstructured":"Bureau A, Parker MM, Ruczinski I, et al. Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts. Genetics. 2014;197:1039\u201344.","journal-title":"Genetics"},{"key":"10_CR22","doi-asserted-by":"publisher","first-page":"2889","DOI":"10.1002\/ajmg.a.37826","volume":"170","author":"E Nishi","year":"2016","unstructured":"Nishi E, Masuda K, Arakawa M, et al. Exome sequencing-based identification of mutations in non-syndromic genes among individuals with apparently syndromic features. Am J Med Genet A. 2016;170:2889\u201394.","journal-title":"Am J Med Genet A"},{"key":"10_CR23","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1242\/dev.123.1.47","volume":"123","author":"DA Kane","year":"1996","unstructured":"Kane DA, Hammerschmidt M, Mullins MC, et al. The zebrafish epiboly mutants. Development. 1996;123:47\u201355.","journal-title":"Development"},{"key":"10_CR24","doi-asserted-by":"publisher","first-page":"1105","DOI":"10.1242\/dev.01668","volume":"132","author":"DA Kane","year":"2005","unstructured":"Kane DA, McFarland KN, Warga RM. Mutations in half baked\/E-cadherin block cell behaviors that are necessary for teleost epiboly. Development. 2005;132:1105\u201316.","journal-title":"Development"},{"key":"10_CR25","doi-asserted-by":"publisher","first-page":"1525","DOI":"10.1002\/ajmg.a.36465","volume":"164A","author":"FK Ababneh","year":"2014","unstructured":"Ababneh FK, Al-Swaid A, Elhag A, Youssef T, Alsaif S. Blepharo-cheilo-dontic (BCD) syndrome: expanding the phenotype, case report and review of literature. Am J Med Genet A. 2014;164A:1525\u20139.","journal-title":"Am J Med Genet A"},{"key":"10_CR26","doi-asserted-by":"publisher","first-page":"2360","DOI":"10.1001\/jama.297.21.2360","volume":"297","author":"P Kaurah","year":"2007","unstructured":"Kaurah P, MacMillan A, Boyd N, et al. Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. JAMA. 2007;297:2360\u201372.","journal-title":"JAMA"},{"key":"10_CR27","doi-asserted-by":"publisher","first-page":"448","DOI":"10.1016\/j.ejso.2006.10.028","volume":"33","author":"F Roviello","year":"2007","unstructured":"Roviello F, Corso G, Pedrazzani C, et al. Hereditary diffuse gastric cancer and E-cadherin: description of the first germline mutation in an Italian family. Eur J Surg Oncol. 2007;33:448\u201351.","journal-title":"Eur J Surg Oncol"},{"key":"10_CR28","doi-asserted-by":"publisher","first-page":"360","DOI":"10.1038\/380360a0","volume":"380","author":"B Nagar","year":"1996","unstructured":"Nagar B, Overduin M, Ikura M, Rini JM. Structural basis of calcium-induced E-cadherin rigidification and dimerization. Nature. 1996;380:360\u20134.","journal-title":"Nature"},{"key":"10_CR29","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1038\/7542","volume":"6","author":"H Takeda","year":"1999","unstructured":"Takeda H, Shimoyama Y, Nagafuchi A, Hirohashi S. E-cadherin functions as a cis-dimer at the cell-cell adhesive interface in vivo. Nat Struct Biol. 1999;6:310\u20132.","journal-title":"Nat Struct Biol"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/s41431-017-0010-5","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/s41431-017-0010-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/s41431-017-0010-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,20]],"date-time":"2023-05-20T21:41:15Z","timestamp":1684618875000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41431-017-0010-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,1,18]]},"references-count":29,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018,2]]}},"alternative-id":["10"],"URL":"https:\/\/doi.org\/10.1038\/s41431-017-0010-5","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,1,18]]},"assertion":[{"value":"11 April 2017","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 August 2017","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 August 2017","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 January 2018","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors declare that they no competing interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}