RT Journal Article
SR Electronic
T1 Cleft lip/palate and <em>CDH1/E-cadherin</em> mutations in families with hereditary diffuse gastric cancer
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 138
OP 142
DO 10.1136/jmg.2005.031385
VO 43
IS 2
A1 T Frebourg
A1 C Oliveira
A1 P Hochain
A1 R Karam
A1 S Manouvrier
A1 C Graziadio
A1 M Vekemans
A1 A Hartmann
A1 S Baert-Desurmont
A1 C Alexandre
A1 S Lejeune Dumoulin
A1 C Marroni
A1 C Martin
A1 S Castedo
A1 M Lovett
A1 J Winston
A1 J C Machado
A1 T Attié
A1 E W Jabs
A1 J Cai
A1 Ph Pellerin
A1 J P Triboulet
A1 M Scotte
A1 F Le Pessot
A1 A Hedouin
A1 F Carneiro
A1 M Blayau
A1 R Seruca
YR 2006
UL http://jmg.bmj.com/content/43/2/138.abstract
AB 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 with trans-dominant negative effects. We found that CDH1 is highly expressed at 4 and 5 weeks in the frontonasal prominence, and at 6 weeks in the lateral and medial nasal prominences of human embryos, and is therefore expressed during the critical stages of lip and palate development. These findings suggest that alteration of the E-cadherin pathway can contribute to human clefting.