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Genetics of cleft lip and cleft palate

Authors

  • Elizabeth J. Leslie,

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    • Elizabeth J. Leslie received her Ph.D. in Genetics from the University of Iowa in 2012, and is currently pursuing a postdoctoral fellowship in Craniofacial and Dental Genetics, and in Biomedical Informatics at the University of Pittsburgh.
  • Mary L. Marazita

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    • Mary L. Marazita received her Ph.D. in Genetics from the University of North Carolina, Chapel Hill in 1980, followed by postdoctoral training in Craniofacial Biology at the University of Southern California (1980–1982), and American Board of Medical Genetics certification as a Ph.D. Medical Geneticist (1987). Following faculty positions at UCLA and the Medical College of Virginia, she is currently Director of the Center for Craniofacial and Dental Genetics, and Professor of Oral Biology, Human Genetics, Clinical and Translational Science, and Psychiatry at the University of Pittsburgh.

Correspondence to: Mary L. Marazita, Ph.D., Center for Craniofacial and Dental Genetics, University of Pittsburgh, Suite 500 Bridgeside Point, 100 Technology Dr, Pittsburgh, PA 15219.

E-mail: marazita@pitt.edu

Abstract

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. © 2013 Wiley Periodicals, Inc.

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