Article
Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2016
Ockeloen Charlotte W, Khandelwal Kriti D, Dreesen Karoline, Ludwig Kerstin U, Sullivan Robert, van Rooij Iris A L M, Thonissen Michelle, Swinnen Steven, Phan Milien, Conte Federica, Ishorst Nina, Gilissen Christian, RoaFuentes Laury, van de Vorst Maartje, Henkes Arjen, Steehouwer Marloes, van Beusekom Ellen, Bloemen Marjon, Vankeirsbilck Bruno, Bergé Stefaan, Hens Greet, Schoenaers Joseph, Poorten Vincent Vander, Roosenboom Jasmien, Verdonck An, Devriendt Koen, Roeleveldt Nel, Jhangiani Shalini N, Vissers Lisenka E L M, Lupski James R, de Ligt Joep, Von den Hoff Johannes W, Pfundt Rolph, Brunner Han G, Zhou Huiqing, Dixon Jill, Mangold Elisabeth, van Bokhoven Hans, Dixon Michael J, Kleefstra Tjitske, Hoischen Alexander, Carels Carine E L
Abstract excerpt
PURPOSE: We aimed to identify a novel genetic cause of tooth agenesis (TA) and/or orofacial clefting (OFC) by combining whole-exome sequencing (WES) and targeted resequencing in a large cohort of TA and OFC patients. METHODS: WES was performed in two unrelated patients: one with severe TA and OFC and another with severe TA only. After deleterious mutations were identified in a gene encoding low-density...
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