Abstract
Cleft lip and/or cleft palate (CL/P) is a common, multifactorial birth defect. CL/P affects 0.5%-2.0% of all live births; morbidity in CL/P cases is high. The development of CL/P in nonsyndromic cases relies upon an interaction of genetic and environmental factors. The gene ZEB1 induces epithelial-to-mesenchymal transition (EMT) and may be related to CL/P, as EMT of cells is important in fetal growth and development. It was hypothesized that novel variants, as well as known SNPs, will be found. Polymerase chain reaction (PCR) amplified coding regions and nearby introns of ZEB1 from DNA obtained from Filipino and Iowan cases. Mutations found were checked for expected damage and novelty.
Thirteen new single nucleotide polymorphisms (SNPs) were discovered, 12 of which were on introns. They may be significant for future research involving transcription factor binding. Known SNPs were found in 7 locations; two have statistically significantly higher MAF values compared to the control populations (p<0.05). One occurred in the Filipino population, the other in the Iowan, suggesting that isolated cases developed using different mechanisms. CL/P may also have developed similarly across some cases in the same population. These developmental mechanisms may be further explored to understand CL/P development further.
