Mutations in sFRP1 or sFRP4 are not a common cause of craniotubular hyperostosis

► Mutation screening of sFRP1 and 4 in patients with craniotubular hyperostosis. ► Several known polymorphisms were found in the screening of sFRP4. ► One unknown heterozygous coding variant, p.Trp131Arg/−, was identified in sFRP1. ► The p.Trp131Arg/− change was found in a patient with endosteal hyperostosis. ► Prediction programs expect that the variant does not affect the protein function.