Identification of germline mutations in the cancer predisposing gene CDH1 in patients with orofacial clefts.

@article{Vogelaar2013IdentificationOG,
  title={Identification of germline mutations in the cancer predisposing gene CDH1 in patients with orofacial clefts.},
  author={Ingrid P. Vogelaar and Joana Figueiredo and Iris A. L. M. van Rooij and Joana Sim{\~o}es-Correia and Rachel S van der Post and Soraia Melo and Raquel Seruca and Carine E L Carels and Marjolijn J. L. Ligtenberg and Nicoline Hoogerbrugge},
  journal={Human molecular genetics},
  year={2013},
  volume={22 5},
  pages={919-26}
}
Orofacial clefts (OFC) are among the most common birth defects worldwide. The etiology of non-syndromic OFC is still largely unknown. During embryonic development, the cell adhesion molecule E-cadherin, encoded by CDH1, is highly expressed in the median edge epithelium of the palate. Furthermore, in multiple families with CDH1 mutations, OFC cases are observed. To determine whether CDH1 is a causative gene for non-syndromic OFC and to assess whether CDH1 mutation screening in non-syndromic OFC… CONTINUE READING