Pedigree of the three related individuals diagnosed with FHH and carrying the
mutation. Ι-1 and Ι-2 are symptomatic and have osteoporosis. ΙΙ-1 is asymptomatic with normal BMD. The amino acid substitution was found in the affected proband in Ι-2 and the same mutation was revealed in Ι-1 and ΙΙ-1. The filled symbol illustrates the individuals carrying the R220W mutation.