Cleft lip and palate: synthesizing genetic and environmental influences
Identifieur interne : 002981 ( Pmc/Corpus ); précédent : 002980; suivant : 002982Cleft lip and palate: synthesizing genetic and environmental influences
Auteurs : Michael J. Dixon ; Mary L. Marazita ; Terri H. Beaty ; Jeffrey C. MurraySource :
- Nature reviews. Genetics [ 1471-0056 ] ; 2011.
Abstract
Clefts of the lip and/or palate (CLP) are common birth defects of complex etiology. CLP can occur in isolation or as part of a broad range of chromosomal, Mendelian, or teratogenic syndromes. Although there has been marked progress in identifying genetic and environmental triggers for syndromic CLP, the etiology of the more common non-syndromic (isolated) forms remains poorly characterized. Recently, using a combination of epidemiology, careful phenotyping, genome-wide association studies and analysis of animal models, several distinct genetic and environmental risk factors have been identified and confirmed for non-syndromic CLP. These findings have advanced our understanding of developmental biology and created new opportunities for clinical translation research.
Url:
DOI: 10.1038/nrg2933
PubMed: 21331089
PubMed Central: 3086810
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PMC:3086810Le document en format XML
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<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">100962779</journal-id><journal-id journal-id-type="pubmed-jr-id">22269</journal-id><journal-id journal-id-type="nlm-ta">Nat Rev Genet</journal-id><journal-title-group><journal-title>Nature reviews. Genetics</journal-title></journal-title-group><issn pub-type="ppub">1471-0056</issn><issn pub-type="epub">1471-0064</issn></journal-meta><article-meta><article-id pub-id-type="pmid">21331089</article-id><article-id pub-id-type="pmc">3086810</article-id><article-id pub-id-type="doi">10.1038/nrg2933</article-id><article-id pub-id-type="manuscript">NIHMS284150</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Cleft lip and palate: synthesizing genetic and environmental influences</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Dixon</surname><given-names>Michael J.</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Marazita</surname><given-names>Mary L.</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Beaty</surname><given-names>Terri H.</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Murray</surname><given-names>Jeffrey C.</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib></contrib-group><aff id="A1"><label>1</label>Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, Michael Smith Building, University of Manchester, Oxford Road, Manchester, M13 9PT, United Kingdom</aff><aff id="A2"><label>2</label>Center for Craniofacial and Dental Genetics, Department of Oral Biology, School of Dental Medicine, Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 14219, United States of America</aff><aff id="A3"><label>3</label>Department of Epidemiology, School of Public Health, Johns Hopkins University, Baltimore, Maryland, United States of America</aff><aff id="A4"><label>4</label>Departments of Pediatrics, Biology and Epidemiology, University of Iowa, Iowa 52242, United States of America</aff><author-notes><corresp id="cor1">Correspondence to J.C.M. <email>jeff-murray@uiowa.edu</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>12</day><month>4</month><year>2011</year></pub-date><pub-date pub-type="ppub"><month>3</month><year>2011</year></pub-date><pub-date pub-type="pmc-release"><day>3</day><month>5</month><year>2011</year></pub-date><volume>12</volume><issue>3</issue><fpage>167</fpage><lpage>178</lpage><abstract><p id="P1">Clefts of the lip and/or palate (CLP) are common birth defects of complex etiology. CLP can occur in isolation or as part of a broad range of chromosomal, Mendelian, or teratogenic syndromes. Although there has been marked progress in identifying genetic and environmental triggers for syndromic CLP, the etiology of the more common non-syndromic (isolated) forms remains poorly characterized. Recently, using a combination of epidemiology, careful phenotyping, genome-wide association studies and analysis of animal models, several distinct genetic and environmental risk factors have been identified and confirmed for non-syndromic CLP. 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