MassARRAY®GENOTYPER™ was used to genotype 18 SNPs of the PTCH1 gene in 187 NTDs and 212 control samples, to determine whether PTCH1 polymorphisms are related to NTDs.
We believe this to be the first report of cranial NTD in NBCCS and suggest that consideration be given to including PTCH analysis in genetic association studies in NTDs as the hedgehog pathway is integral to normal human neurulation.