Genetics of nonsyndromic orofacial clefts

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
Fedik RahimovJeffrey C Murray

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 ...Continue Reading

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Methods Mentioned

BETA
dissection
transgenic
genotyping
exome sequencing

Related Concepts

Birth
Obstetric Delivery
Genes
Research
Cognitive Complexity
Shapes
Genotype Determination
Genome Sequencing
Candidate Disease Gene
IMP-1 protein, human

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