Cleft lip and palate: understanding genetic and environmental influences

Michael J Dixon; Mary L Marazita; Terri H Beaty; Jeffrey C Murray

doi:10.1038/nrg2933

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Cleft lip and palate: understanding genetic and environmental influences

Journal article

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Peer reviewed

Cleft lip and palate: understanding genetic and environmental influences

Michael J Dixon, Mary L Marazita, Terri H Beaty and Jeffrey C Murray

Nature reviews. Genetics, Vol.12(3), pp.167-178

03/2011

DOI: 10.1038/nrg2933

PMCID: PMC3086810

PMID: 21331089

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https://www.ncbi.nlm.nih.gov/pmc/articles/3086810View

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Abstract

Clefts of the lip and/or palate (CLP) are common birth defects of complex aetiology. 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 aetiology 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 translational research.

Genome-Wide Association Study

Cleft Lip - epidemiology

Humans

Gene Expression Regulation

Male

Cleft Palate - genetics

Cleft Lip - genetics

Animals

Cleft Palate - etiology

Environment

Female

Mice

Cleft Palate - epidemiology

Mutation

Cleft Lip - etiology

Details

Title: Subtitle: Cleft lip and palate: understanding genetic and environmental influences
Creators: Michael J Dixon - Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, Michael Smith Building, University of Manchester, Oxford Road, Manchester M13 9PT, UK
Mary L Marazita
Terri H Beaty
Jeffrey C Murray
Resource Type: Journal article
Publication Details: Nature reviews. Genetics, Vol.12(3), pp.167-178
DOI: 10.1038/nrg2933
PMID: 21331089
PMCID: PMC3086810
NLM abbreviation: Nat Rev Genet
ISSN: 1471-0056
eISSN: 1471-0064
Publisher: England
Grant note: P50 DE016215 / NIDCR NIH HHS R37 DE008559-20 / NIDCR NIH HHS R01 DE016148 / NIDCR NIH HHS R01 DE008559 / NIDCR NIH HHS U01 DE018993-01 / NIDCR NIH HHS R01-DE08559 / NIDCR NIH HHS P50-DE016215 / NIDCR NIH HHS U01 DE018993-02 / NIDCR NIH HHS R01 DE014581 / NIDCR NIH HHS U01 DE020057 / NIDCR NIH HHS R01 DE012472-03 / NIDCR NIH HHS U01-DE20057 / NIDCR NIH HHS R01 DE014581-07 / NIDCR NIH HHS G0901539 / Medical Research Council U01 DE020057-03 / NIDCR NIH HHS U01-DE018993 / NIDCR NIH HHS U01 DE018993 / NIDCR NIH HHS R01 DE016148-06 / NIDCR NIH HHS 082,868 / Wellcome Trust P50 DE016215-05 / NIDCR NIH HHS U01 DE020057-02 / NIDCR NIH HHS G1001601 / Medical Research Council P50 DE016215-04 / NIDCR NIH HHS R01 DE012472-02 / NIDCR NIH HHS R37 DE008559 / NIDCR NIH HHS R01 DE014581-08 / NIDCR NIH HHS R37 DE008559-21 / NIDCR NIH HHS R01 DE016148-07 / NIDCR NIH HHS R01-DE016148 / NIDCR NIH HHS R37 DE008559-19 / NIDCR NIH HHS R01-DE014581 / NIDCR NIH HHS
Language: English
Date published: 03/2011
Academic Unit: Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
Record Identifier: 9984025469502771

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