Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1852, USA. muenke@nih.gov
Orofacial clefts (cleft lip and/or palate) are among the most common birth defects in humans, affecting up to 1 in 500 infants at birth. The cause of the most common syndromic clefting condition, Van der Woude syndrome, has now been identified as haploinsufficiency of the gene encoding interferon regulatory factor 6 (IRF6). Furthermore, dominant-negative mutations of IRF6 lead to webbing of the skin in popliteal pterygium syndrome, demonstrating beyond doubt that these syndromes are allelic.
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NEWS AND VIEWS Time for T Nature Genetics News and Views (01 Oct 2001)
