Abstract
Statement of the Problem: Cleft lip and cleft palate (CL/P) are the most frequent congenital craniofacial birth defects in humans, affecting 0.67:1000 live births. The etiology of nonsyndromic cleft lip with or without cleft palate (CL ± CP) is believed to be multifactorial and to result from the interaction of genetic and environmental factors. The Msx-1 gene has been implicated as being a contributing factor in mediating epithelial-mesenchymal interactions during embryologic development of craniofacial and palatal bones. Recently, it was suggested that genetic alterations of the Msx-1 transcription factor may be etiologically important in at least some cases of nonsyndromic CL ± CP. The objective of this study is to characterize genetic variation in coding regions of the Msx-1 gene and to determine if any of the genetic variants are associated with CL ± CP.
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