Genetics of Nonsyndromic Orofacial Clefts

Author:

Rahimov Fedik1,Jugessur Astanand2,Murray Jeffrey C.3

Affiliation:

1. Department of Pediatrics, University of Iowa, Iowa City, Iowa, and is Postdoctoral Fellow, Program in Genomics, Division of Genetics, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts.

2. Division of Epidemiology, Norwegian Institute of Public Health, Oslo, Norway, and Craniofacial Research, Musculoskeletal Disorders, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.

3. Division of Neonatology, Department of Pediatrics, University of Iowa, Iowa City, Iowa.

Abstract

With an average worldwide prevalence of approximately 1.2/1000 live births, orofacial clefts are the most common craniofacial birth defects in humans. Like other complex disorders, these birth defects are thought to result from the complex interplay of multiple genes and environmental factors. Significant progress in the identification of underlying genes and pathways has benefited from large populations available for study, increased international collaboration, rapid advances in genotyping technology, and major improvements in analytic approaches. Here we review recent advances in genetic epidemiological approaches to complex traits and their applications to studies of nonsyndromic orofacial clefts. Our main aim is to bring together a discussion of new and previously identified candidate genes to create a more cohesive picture of interacting pathways that shape the human craniofacial region. In future directions, we highlight the need to search for copy number variants that affect gene dosage and rare variants that are possibly associated with a higher disease penetrance. In addition, sequencing of protein-coding regions in candidate genes and screening for genetic variation in noncoding regulatory elements will help advance this important area of research.

Publisher

SAGE Publications

Subject

Otorhinolaryngology,Oral Surgery

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