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Updated: Jun 22, 2026
09:26
Quantification of Orofacial Phenotypes in Xenopus
Published on: November 6, 2014
Genetic Factors and Orofacial Clefting.
Andrew C Lidral1, Lina M Moreno, Steven A Bullard
1Department of Orthodontics, University of Iowa, Iowa City, IA.
Seminars in Orthodontics
|June 4, 2009
Summary
Genetic and environmental factors cause cleft lip and palate, the most common birth defect. Recent gene discoveries explain up to 20% of cases, with ongoing research identifying more genetic and environmental influences.
Area of Science:
- Genetics
- Developmental Biology
- Public Health
Background:
- Cleft lip with or without cleft palate is a common congenital facial anomaly.
- Its etiology involves complex genetic and environmental interactions.
Purpose of the Study:
- To review the genetic causes of cleft lip and palate (CLP).
- To highlight syndromic and nonsyndromic forms of CLP.
- To discuss ongoing research in gene identification and interaction studies.
Main Methods:
- Review of current literature on genetic factors in orofacial clefting.
- Analysis of findings from human genome-wide linkage studies.
- Evaluation of gene-environment interaction models.
Main Results:
- Several genes identified contribute to approximately 20% of all cleft cases.
- Genome-wide studies suggest key gene regions, including a major locus on chromosome 9.
- Research is actively identifying specific mutations in these regions and environmental pathway genes.
Conclusions:
- Significant progress has been made in identifying genes responsible for CLP.
- Further research is needed to identify all causative genes and understand gene-gene/gene-environment interactions.
- The ultimate goal is improved risk assessment and preventive strategies for CLP.
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