Article
Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer.
Journal of medical genetics - 1 Feb 2006
Frebourg T, Oliveira C, Hochain P, Karam R, Manouvrier S, Graziadio C, Vekemans M, Hartmann A, Baert-Desurmont S, Alexandre C, Lejeune Dumoulin S, Marroni C, Martin C, Castedo S, Lovett M, Winston J, Machado J C, Attié T, Jabs E W, Cai J, Pellerin Ph, Triboulet J P, Scotte M, Le Pessot F, Hedouin A, Carneiro F, Blayau M, Seruca R
Abstract excerpt
We report the association of CDH1/E-cadherin mutations with cleft lip, with or without cleft palate (CLP), in two families with hereditary diffuse gastric cancer (HDGC). In each family, the CDH1 mutation was a splicing mutation generating aberrant transcripts with an in-frame deletion, removing the extracellular cadherin repeat domains involved in cell-cell adhesion. Such transcripts might encode mutant proteins...
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