Figure 1.

Family pedigree (F01). The proband, III-1, is indicated by an arrow. Members of family with ascertained clinical evidence of Paget's disease of bone (PDB; III-1, III-3, III-6, III-12 and III-13) are represented by black symbols. Subjects strongly suspected to be affected by PDB, as reported by personal history in relatives (II-3, II-8 and II-10), are indicated by horizontal bar symbols. Relatives potentially mutant on the basis of pedigree reconstruction (II-1, II-2, II-7 and III-5) are represented by vertical bar symbols. Grey symbols identify individuals known to have the M404V mutation but whose PDB disease was not expressed; open symbols indicate subjects not exhibiting either the mutation or clinical evidence of PDB. Underlined numbers indicate individuals in whom a genetic test was performed. Question marks identify individuals whose clinical phenotype is not verifiable.