Progress toward discerning the genetics of cleft lip

Andrew C Lidral; Lina M Moreno

doi:10.1097/01.mop.0000185138.65820.7f

Back

Journal article

Progress toward discerning the genetics of cleft lip

Andrew C Lidral and Lina M Moreno

Current opinion in pediatrics, Vol.17(6), pp.731-739

12/2005

DOI: 10.1097/01.mop.0000185138.65820.7f

PMCID: PMC2752353

PMID: 16282779

Files and links (1)

url

https://www.ncbi.nlm.nih.gov/pmc/articles/2752353View

Open Access

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.\nThe 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.\nWith 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.

Cleft Lip - genetics

Genetic Predisposition to Disease - genetics

Transforming Growth Factor beta - genetics

MSX1 Transcription Factor - genetics

Humans

Interferon Regulatory Factors - genetics

Proto-Oncogene Proteins - genetics

Cleft Palate - genetics

Transcription Factors

Transforming Growth Factor beta3

Child

Details

Title: Subtitle: Progress toward discerning the genetics of cleft lip
Creators: Andrew C Lidral - Department of Orthodontics, University of Iowa, Iowa City, Iowa 52242, USA. Andrew-Lidral@uiowa.edu
Lina M Moreno
Resource Type: Journal article
Publication Details: Current opinion in pediatrics, Vol.17(6), pp.731-739
DOI: 10.1097/01.mop.0000185138.65820.7f
PMID: 16282779
PMCID: PMC2752353
NLM abbreviation: Curr Opin Pediatr
ISSN: 1040-8703
eISSN: 1531-698X
Publisher: United States
Grant note: R01 DE014667-04 / NIDCR NIH HHS\nP50 DE016215 / NIDCR NIH HHS\nK02 DE015291-03 / NIDCR NIH HHS\nKO2DE015291 / NIDCR NIH HHS\nK02 DE015291-04 / NIDCR NIH HHS\nR01DE14677 / NIDCR NIH HHS\nR01 DE014667-03 / NIDCR NIH HHS\nR01 DE014667-06 / NIDCR NIH HHS\nR01 DE014667-02 / NIDCR NIH HHS\nR01 DE014667 / NIDCR NIH HHS\nD43 TW005503 / FIC NIH HHS\nP50DE016215 / NIDCR NIH HHS\nK02 DE015291 / NIDCR NIH HHS\nK02 DE015291-01 / NIDCR NIH HHS\n1D43 TW-05503 / FIC NIH HHS\nR01 DE014667-07 / NIDCR NIH HHS\nR01 DE014667-01 / NIDCR NIH HHS\nR01 DE014667-05 / NIDCR NIH HHS\nK02 DE015291-05 / NIDCR NIH HHS\nK02 DE015291-02 / NIDCR NIH HHS\nR01 DE014667-08 / NIDCR NIH HHS
Language: English
Date published: 12/2005
Academic Unit: Orthodontics; Craniofacial Anomalies Research Center; Dental Research
Record Identifier: 9984065803002771

Metrics

30 Record Views

92 Times Cited - Web of Science