A Mutational Hotspot in CYLD Causing Cylindromas: A Comparison of Phenotypes Arising in Different Genetic Backgrounds.

The article discusses a study which compared the phenotypes arising in different genetic backgrounds. It mentioned the inclusion of a Hungarian pedigree from Bukovina, Romania, affected by BSS and an English pedigree from northern England. It concluded that the identification of genetic variation is important in the prognostic counselling of cylindromatosis gene (CYLD) mutation carriers.