Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
Volume 163, Issue 4, Pages 246-258Publisher
WILEY
DOI: 10.1002/ajmg.c.31381
Keywords
cleft lip; cleft palate; genetics; syndromes; nonsyndromic
Categories
Funding
- NIH [T15-LM007059, DE016148, DE0200570]
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Orofacial clefts are common birth defects and can occur as isolated, nonsyndromic events or as part of Mendelian syndromes. There is substantial phenotypic diversity in individuals with these birth defects and their family members: from subclinical phenotypes to associated syndromic features that is mirrored by the many genes that contribute to the etiology of these disorders. Identification of these genes and loci has been the result of decades of research using multiple genetic approaches. Significant progress has been made recently due to advances in sequencing and genotyping technologies, primarily through the use of whole exome sequencing and genome-wide association studies. Future progress will hinge on identifying functional variants, investigation of pathway and other interactions, and inclusion of phenotypic and ethnic diversity in studies. (c) 2013 Wiley Periodicals, Inc.
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