Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone:: Evidence for a founder effect in patients of British descent

Mutations in the UBA domain of SQSTM1 are a common cause of Paget's disease of bone. Here we show that the most common disease-causing mutation (P392L) is carried on a shared haplotype, consistent with a founder effect and a common ancestral origin.