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Journal of Medical GeneticsVolume 43, Issue 2, February 2006, Pages 138-142

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

  • 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.,
  • Cai, J.,
  • Pellerin, Ph.,
  • Triboulet, J.P.,
  • Scotte, M.,
  • Le Pessot, F.,
  • Hedouin, A.,
  • Carneiro, F.,
  • Blayau, M.,
  • Seruca, R.
  • View Correspondence (jump link)
  • aDepartment of Genetics, Rouen University Hospital, Rouen, France
  • bInstitute of Molecular Pathology and Immunology, University of Porto (IPATIMUP), Porto, Portugal
  • cCentre Médico-Chirurgical du Cèdre, Bois-Guillaume, France
  • dIPATIMUP, Porto, Portugal
  • eDepartment of Genetics, Fundação Faculdade Federal de Ciências Médicas de Porto Alegre (FFFCMPA), Porto Alegre, Brazil
  • fDepartment of Genetics, Lille University Hospital, Lille, France
  • gDepartment of Genetics, FFFCMPA, Porto Alegre, Brazil
  • hDepartment of Genetics, Inserm U393, Necker, Paris, France
  • iDepartment of Pathology, FFFCMPA, Porto Alegre, Brazil
  • jDepartment of Gastroenterology, FFFCMPA, Porto Alegre, Brazil
  • kDepartment of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal
  • lDepartment of Genetics, Washington University School of Medicine, St. Louis, MO, United States
  • mIPATIMUP, Department of Pathology, University of Porto, Porto, Portugal
  • nInstitute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, United States
  • oDepartment of Plastic Surgery, Lille University Hospital, Lille, France
  • pDepartment of Surgery, Lille University Hospital, Lille, France
  • qDepartment of Surgery, Rouen University Hospital, Rouen, France
  • rDepartment of Pathology, Rouen University Hospital, Rouen, France
  • sMolecular Genetics Laboratory, Rennes University Hospital, Rennes, France
  • tInserm U614, Faculty of Medicine, 22 Boulevard Gambetta, 76183 Rouen, France
  • uIPATIMUP, Rua Dr. Roberto Frias, s/n, 4200-465 Porto, Portugal

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.

Indexed keywords

EMTREE drug terms:uvomorulin
EMTREE medical terms:adultarticlecell adhesioncleft lipcleft lip palateclinical articlecontrolled studydisease associationfemalegene mutationgenetic associationhereditary diffuse stomach cancerhumanlipmalenucleotide sequenceorganogenesispalatepriority journalprotein expressionprotein functionstomach cancertissue specificity
MeSH:AdultCadherinsCleft LipCleft PalateDNA Mutational AnalysisGene Expression ProfilingHumansMutationPedigreeStomach Neoplasms

Molecular Sequence Numbers:

GENBANK,

NM_004360(referenced)

Chemicals and CAS Registry Numbers:

uvomorulin, 112956-45-3;

Cadherins

  • ISSN: 00222593
  • CODEN: JMDGA
  • Source Type: Journal
  • Original language: English
  • DOI: 10.1136/jmg.2005.031385
  • PubMed ID: 15831593
  • Document Type: Article

  Frebourg, T.; Inserm U614, Faculty of Medicine, 22 Boulevard Gambetta, France;
© Copyright 2008 Elsevier B.V., All rights reserved. © MEDLINE® is the source for the MeSH terms of this document.

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Figueiredo, J. , Melo, S. , Carneiro, P.
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