Article
Mutations in WNT1 cause different forms of bone fragility.
American journal of human genetics - 4 Apr 2013
Keupp Katharina, Beleggia Filippo, Kayserili Hülya, Barnes Aileen M, Steiner Magdalena, Semler Oliver, Fischer Björn, Yigit Gökhan, Janda Claudia Y, Becker Jutta, Breer Stefan, Altunoglu Umut, Grünhagen Johannes, Krawitz Peter, Hecht Jochen, Schinke Thorsten, Makareeva Elena, Lausch Ekkehart, Cankaya Tufan, Caparrós-Martín José A, Lapunzina Pablo, Temtamy Samia, Aglan Mona, Zabel Bernhard, Eysel Peer, Koerber Friederike, Leikin Sergey, Garcia K Christopher, Netzer Christian, Schönau Eckhard, Ruiz-Perez Victor L, Mundlos Stefan, Amling Michael, Kornak Uwe, Marini Joan, Wollnik Bernd
Abstract excerpt
We report that hypofunctional alleles of WNT1 cause autosomal-recessive osteogenesis imperfecta, a congenital disorder characterized by reduced bone mass and recurrent fractures. In consanguineous families, we identified five homozygous mutations in WNT1: one frameshift mutation, two missense mutations, one splice-site mutation, and one nonsense mutation. In addition, in a family affected by dominantly inherited...
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