Work

Genetics of cleft lip and cleft palate

Year: 2013

Type: review

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.

Source: American Journal of Medical Genetics Part C Seminars in Medical Genetics

DOI: 10.1002/ajmg.c.31381

Authors: Elizabeth J. Leslie, Mary L. Marazita

Institutions: University of Iowa, University of Pittsburgh, University of North Carolina at Chapel Hill, University of Southern California

Language: English

Topic: Cleft Lip and Palate Research

Subfield: Oral Surgery

Field: Dentistry

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: National Institutes of Health, National Institute of Dental and Craniofacial Research, U.S. National Library of Medicine