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Decoding the Human Face: Progress and Challenges in Understanding the Genetics of Craniofacial Morphology.

Authors :
Naqvi, Sahin
Hoskens, Hanne
Wilke, Franziska
Weinberg, Seth M.
Shaffer, John R.
Walsh, Susan
Shriver, Mark D.
Wysocka, Joanna
Claes, Peter
Source :
Annual Review of Genomics & Human Genetics. 2022, Vol. 23 Issue 1, p383-412. 28p.
Publication Year :
2022

Abstract

Variations in the form of the human face, which plays a role in our individual identities and societal interactions, have fascinated scientists and artists alike. Here, we review our current understanding of the genetics underlying variation in craniofacial morphology and disease-associated dysmorphology, synthesizing decades of progress on Mendelian syndromes in addition to more recent results from genome-wide association studies of human facial shape and disease risk. We also discuss the various approaches used to phenotype and quantify facial shape, which are of particular importance due to the complex, multipartite nature of the craniofacial form. We close by discussing how experimental studies have contributed and will further contribute to our understanding of human genetic variation and then proposing future directions and applications for the field. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
15278204
Volume :
23
Issue :
1
Database :
Academic Search Index
Journal :
Annual Review of Genomics & Human Genetics
Publication Type :
Academic Journal
Accession number :
162416021
Full Text :
https://doi.org/10.1146/annurev-genom-120121-102607