Variation in IRF6 contributes to nonsyndromic cleft lip and palate.
Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common craniofacial birth defect which results in lifelong medical and social consequences. While there have been a number of attempts to identify the genes responsible for this disorder, the results have not been consistent among populations and no single gene has been identified as playing a major susceptibility role. Van der Woude syndrome, a disorder characterized by lower-lip pits with or without cleft lip/palate, results in many cases from mutations in the interferon regulatory factor 6 (IRF6) gene. Recently, Zucchero et al. [2004: N Engl J Med 351:769-780] detected an association between SNPs in IRF6 and NSCLP in a number of different populations. A subsequent study by Scapoli et al. [2005: Am J Hum Genet 76:180-183] confirmed this association in an Italian population. We examined the same SNPs as Scapoli et al. [2005] in our large, well-characterized sample of NSCLP families and trios, and also detected an altered transmission of IRF6 alleles. This additional confirmation further strengthens the IRF6 association and suggests that IRF6 plays a role in NSCLP susceptibility.
Blanton
Susan H
SH
University of Virginia, Charlottesville, USA.
Cortez
Amy
A
Stal
Samuel
S
Mulliken
John B
JB
Finnell
Richard H
RH
Hecht
Jacqueline T
JT
D000483:Alleles; D002971:Cleft Lip / Q000150:complications / Q000235:genetics* / Q000473:pathology; D002972:Cleft Palate / Q000150:complications*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005192:Family Health; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics; D014644:Genetic Variation; D006239:Haplotypes; D006801:Humans; D050835:Interferon Regulatory Factors; D008297:Male; D020641:Polymorphism, Single Nucleotide; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
D004268:DNA-Binding Proteins; C109803:IRF6 protein, human; D050835:Interferon Regulatory Factors; D014157:Transcription Factors