Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer

T. Frebourg; C. Oliveira; P. Hochain; R. Karam; S. Manouvrier; C. Graziadio; M. Vekemans; A. Hartmann; S. Baert-Desurmont; C. Alexandre; S. Lejeune Dumoulin; C. Marroni; C. Martin; S. Castedo; M. Lovett; J. Winston; J. C. Machado; T. Attie; E. W. Jabs; J. Cai; Ph Pellerin; J. P. Triboulet; M. Scotte; F. Le Pessot; A. Hedouin; F. Carneiro; M. Blayau; R. Seruca

doi:10.1136/jmg.2005.031385

Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer

T. Frebourg, C. Oliveira, P. Hochain, R. Karam, S. Manouvrier, C. Graziadio, M. Vekemans, A. Hartmann, S. Baert-Desurmont, C. Alexandre, S. Lejeune Dumoulin, C. Marroni, C. Martin, S. Castedo, M. Lovett, J. Winston, J. C. Machado, T. Attie, E. W. Jabs, J. CaiPh Pellerin, J. P. Triboulet, M. Scotte, F. Le Pessot, A. Hedouin, F. Carneiro, M. Blayau, R. Seruca

School of Medicine

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125 Scopus citations

Abstract

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 CDH/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.

Original language	English (US)
Pages (from-to)	138-142
Number of pages	5
Journal	Journal of Medical Genetics
Volume	43
Issue number	2
DOIs	https://doi.org/10.1136/jmg.2005.031385
State	Published - Feb 2006

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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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., Attie, T., Jabs, E. W., ... Seruca, R. (2006). Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer. Journal of Medical Genetics, 43(2), 138-142. https://doi.org/10.1136/jmg.2005.031385

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, JC, Attie, T, Jabs, EW, Cai, J, Pellerin, P, Triboulet, JP, Scotte, M, Le Pessot, F, Hedouin, A, Carneiro, F, Blayau, M & Seruca, R 2006, 'Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer', Journal of Medical Genetics, vol. 43, no. 2, pp. 138-142. https://doi.org/10.1136/jmg.2005.031385

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title = "Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer",

abstract = "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 CDH/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.",

author = "T. Frebourg and C. Oliveira and P. Hochain and R. Karam and S. Manouvrier and C. Graziadio and M. Vekemans and A. Hartmann and S. Baert-Desurmont and C. Alexandre and {Lejeune Dumoulin}, S. and C. Marroni and C. Martin and S. Castedo and M. Lovett and J. Winston and Machado, {J. C.} and T. Attie and Jabs, {E. W.} and J. Cai and Ph Pellerin and Triboulet, {J. P.} and M. Scotte and {Le Pessot}, F. and A. Hedouin and F. Carneiro and M. Blayau and R. Seruca",

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AU - Oliveira, C.

AU - Hochain, P.

AU - Karam, R.

AU - Manouvrier, S.

AU - Graziadio, C.

AU - Vekemans, M.

AU - Hartmann, A.

AU - Baert-Desurmont, S.

AU - Alexandre, C.

AU - Lejeune Dumoulin, S.

AU - Marroni, C.

AU - Martin, C.

AU - Castedo, S.

AU - Lovett, M.

AU - Winston, J.

AU - Machado, J. C.

AU - Attie, T.

AU - Jabs, E. W.

AU - Cai, J.

AU - Pellerin, Ph

AU - Triboulet, J. P.

AU - Scotte, M.

AU - Le Pessot, F.

AU - Hedouin, A.

AU - Carneiro, F.

AU - Blayau, M.

AU - Seruca, R.

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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 CDH/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.

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Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer

Abstract

ASJC Scopus subject areas

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