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Decoding the Human Face: Progress and Challenges in Understanding the Genetics of Craniofacial Morphology
Sahin Naqvi1,2, Hanne Hoskens3,4, Franziska Wilke5
1Department of Chemical and Systems Biology, Stanford University School of Medicine, Stanford, California, USA; email: naqvi@stanford.edu, wysocka@stanford.edu.
Annual Review of Genomics and Human Genetics
|April 28, 2022
Summary
Genetic factors influence human face shape and development. This review synthesizes research on craniofacial morphology genetics, from Mendelian syndromes to genome-wide association studies, for understanding facial variation and disease.
Area of Science:
- Genetics
- Anthropology
- Developmental Biology
Background:
- Human facial variations are crucial for identity and social interaction.
- Understanding craniofacial morphology genetics is complex due to its intricate nature.
- Decades of research exist on Mendelian syndromes and recent genome-wide association studies (GWAS) for facial shape.
Purpose of the Study:
- To review current understanding of genetics underlying craniofacial morphology variation.
- To synthesize progress on Mendelian syndromes and GWAS for human facial shape and disease risk.
- To discuss phenotyping and quantification approaches for facial shape.
Main Methods:
- Literature review synthesizing Mendelian and GWAS findings.
- Discussion of phenotyping and quantitative methods for craniofacial form.
- Analysis of experimental studies' contributions to genetic variation understanding.
Main Results:
- Significant genetic contributions to craniofacial morphology variation are identified.
- Mendelian syndromes and GWAS have elucidated specific genetic factors.
- Diverse methods are employed to phenotype and quantify complex facial structures.
Conclusions:
- Experimental studies are vital for advancing the understanding of human genetic variation in craniofacial development.
- Future research directions and applications in this field are proposed.
- Integrating genetic insights with phenotypic data is key for understanding facial form and associated diseases.
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