{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T14:33:39Z","timestamp":1768833219380,"version":"3.49.0"},"reference-count":30,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2016,7,7]],"date-time":"2016-07-07T00:00:00Z","timestamp":1467849600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Nonsyndromic cleft with or without cleft palate (nsCL\/P) is a common birth defect. Although genome\u2010wide association studies (GWAS) have identified numerous risk variants, a considerable fraction of the genetic heritability remains unknown. The aim of the present study was to replicate a previous finding that <jats:italic>de novo<\/jats:italic> deletions in a 62 kb region of chromosome 7p14 are a risk factor for nsCL\/P, using an independent cohort.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Data from a published case\u2013control GWAS cohort of 399 patients and 1318 controls were used. Copy number variant (CNV) detection in the 62 kb candidate region of 7p14 was performed using QuantiSNP. Putative CNVs in probands were verified and validated by quantitative polymerase chain reaction. Segregation analyses were performed in family members for whom DNA was available.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Within the 62 kb candidate region, a deletion of 7.4 kb showed association with nsCL\/P (13\/387 cases, 20\/1300 controls, <jats:italic>p<\/jats:italic><jats:sub>lowest<\/jats:sub> = 0.024, odds ratio = 2.22). In all families with a sporadic case (<jats:italic>n<\/jats:italic> = 3), the deletion occurred <jats:italic>de novo<\/jats:italic>. In multiplex families, both incomplete segregation and incomplete penetrance were observed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The present data support the hypothesis that deletions at 7p14 are a common risk factor for nsCL\/P. Genome\u2010wide CNV analyses in nsCL\/P cohorts are warranted to explore the functional relevance of these deletions and their contribution to nsCL\/P, and to determine exact breakpoints. Birth Defects Research (Part A) 106:767\u2013772, 2016. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.23539","type":"journal-article","created":{"date-parts":[[2016,7,7]],"date-time":"2016-07-07T05:43:10Z","timestamp":1467870190000},"page":"767-772","source":"Crossref","is-referenced-by-count":7,"title":["Further evidence for deletions in 7p14.1 contributing to nonsyndromic cleft lip with or without cleft palate"],"prefix":"10.1002","volume":"106","author":[{"given":"Johanna","family":"Klamt","sequence":"first","affiliation":[{"name":"Department of Genomics, Life, and Brain Center University of Bonn Bonn Germany"},{"name":"Institute of Human Genetics University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Hofmann","sequence":"additional","affiliation":[{"name":"Department of Genomics, Life, and Brain Center University of Bonn Bonn Germany"},{"name":"Institute of Human Genetics University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne C.","family":"B\u00f6hmer","sequence":"additional","affiliation":[{"name":"Department of Genomics, Life, and Brain Center University of Bonn Bonn Germany"},{"name":"Institute of Human Genetics University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ann\u2010Kathrin","family":"Hoebel","sequence":"additional","affiliation":[{"name":"Department of Genomics, Life, and Brain Center University of Bonn Bonn Germany"},{"name":"Institute of Human Genetics University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lina","family":"G\u00f6lz","sequence":"additional","affiliation":[{"name":"Department of Orthodontics University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessica","family":"Becker","sequence":"additional","affiliation":[{"name":"Department of Genomics, Life, and Brain Center University of Bonn Bonn Germany"},{"name":"Institute of Human Genetics University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander M.","family":"Zink","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Markus","family":"Draaken","sequence":"additional","affiliation":[{"name":"Department of Genomics, Life, and Brain Center University of Bonn Bonn Germany"},{"name":"Institute of Human Genetics University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander","family":"Hemprich","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillo\u2010Facial Surgery University of Leipzig Leipzig Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Scheer","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillo\u2010Facial Surgery University of Cologne Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00fcl","family":"Schmidt","sequence":"additional","affiliation":[{"name":"Department of Cleft Lip and Cleft Palate Surgery Humboldt University of Berlin Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Markus","family":"Martini","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillo\u2010Facial\u2010Plastic Surgery University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Knapp","sequence":"additional","affiliation":[{"name":"Institute of Medical Biometry, Informatics and Epidemiology University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabeth","family":"Mangold","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Bonn Bonn 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