Association of MSX1 and TGFB3 with nonsyndromic clefting in humans

Nonsyndromic cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO) are representative of complex genetic traits. Disease loci of CP/P and CPO can be hypothesized to be identified by a candidate-gene linkage-disequilibrium (LD) strategy. Candidate genes for clefting have been screened for LD with either CL/P or CPO in a population mainly Caucasian. Both case-control- and nuclear-family-based approaches were used. No common mutations were found in the coding regions in a mutation search in certain genes in 69 CPO patients and in a group within the larger group of CL/P patients. Several rare variants of MSX1 and TGFB3 were found. Results are a foundation for further research.