Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate. Issue 11 (3rd August 2015)

• Record Type: Journal Article
• Authors: Brito, Luciano Abreu; Yamamoto, Guilherme Lopes; Melo, Soraia; Malcher, Carolina; Ferreira, Simone Gomes; Figueiredo, Joana; Alvizi, Lucas; Kobayashi, Gerson Shigeru; Naslavsky, Michel Satya; Alonso, Nivaldo; Felix, Temis Maria; Zatz, Mayana; Seruca, Raquel; Passos‐Bueno, Maria Rita
• Is Part Of: Human mutation. Volume 36:Issue 11(2015:Nov.)
• Page Start: 1029
• Page End: 1033
• Publication Date: 2015-08-03
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22827
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22827-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Rare, moderately penetrant variants in the epithelial cadherin gene consist in a promising risk factor for nonsyndromic cleft lip/palate. We highlight the importance of such variants in familial cases, and we suggest haploinsufficiency of <italic>CDH1</italic> as the probable mechanism. To speculate why some <italic>CDH1</italic> pathogenic variants may alternatively result in gastric cancer, we suggest a two‐hit model underlying both phenotypes. <graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgkfnq9w7h" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></p> </abstract>