Progress toward discerning the genetics of cleft lip

Current Opinion in Pediatrics
Andrew C Lidral, Lina Moreno

Abstract

Orofacial clefts are common birth defects with a known genetic component to their etiology. Most orofacial clefts are nonsyndromic, isolated defects, which can be separated into two different phenotypes: (1) cleft lip with or without cleft palate and (2) cleft palate only. Both are genetically complex traits, which has limited the ability to identify disease loci or genes. The purpose of this review is to summarize recent progress of human genetic studies in identifying causal genes for isolated or nonsyndromic cleft lip with or without cleft palate. The results of multiple genome scans and a subsequent meta-analysis have significantly advanced our knowledge by revealing novel loci. Furthermore, candidate gene approaches have identified important roles for IRF6 and MSX1. To date, causal mutations with a known functional effect have not yet been described. With the implementation of genome-wide association studies and inexpensive sequencing, future studies will identify disease genes and characterize both gene-environment and gene-gene interactions to provide knowledge for risk counseling and the development of preventive therapies.

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Related Concepts

BCL3 protein, human
IRF6 protein, human
MSX1 protein, human
Cleft Lip
Cleft Palate, Isolated
Proto-Oncogene Proteins
Transcription Factor
Transforming Growth Factor beta
Genetic Predisposition to Disease
Interferon Regulatory Factors

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