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Table 1 Available clinical and mutational data on affected patients and gene carriers of PDB

From: Segregation of a M404V mutation of the p62/sequestosome 1 (p62/SQSTM1) gene with polyostotic Paget's disease of bone in an Italian family

Pedigree number (sex) Age at clinical diagnosis or DNA evaluation; present age (years) AP (U/l) PDB-related clinical finding Other relevant clinical data
II-3 (M)a Deceased Unknown Diffuse marked bone deformities (Fig. 2a) Died at age 76 years from Alzheimer's disease
II-8 (F)a Deceased Unknown Bone deformities at both lower extremities Died at age 52 years from colon-rectal cancer; also had breast cancer
II-10 (F)a Deceased Unknown Multiple marked diffuse skeletal deformities Died at age 92 years from unknown cause
III-1 (F) b 57; 65 357 Third lumbar vertebra, pelvis, right proximal femur Alive
III-3 (F) b 53; 79 560 Pelvis, both tibias Alive. Apparently healthy
III-5 (M)a Not assessed Unknown Diffuse bone pain Died at age 80 years from unknown cause
III-6 (F)a 62; deceased 2,259 Right pelvis and proximal femur, IV and VIII left ribs Died 12 years previously from osteogenic sarcoma on Pagetic bone (right pelvis)
III-12 (M) b 64; 82 380 Left hipc Alive. Benign prostate hyperplasia
III-13 (M) b 65; 83 610 T5, T10 and L4 vertebral bodies, sacrum, right tibia, right femur, right shoulder and collarbone Alive. Allergy to pollen, hypertensive cardiopathy
IV-1 (F) 41 <120 None Alive, age 42, healthy
IV-13 (F) 53 <120 None Alive, hypertension, age 54
IV-14 (F) 41 <120 None Alive, age 42, lumbar–sacral discal hernia, goitre
IV-15 (M) 47 <120 None Alive, age 48 allergy to pollen
IV-16 (F) 48 <120 None Alive, age 49, allergy to pollen
  1. The M404V mutation was ascertained in individuals listed in bold. The highest observed levels of alkaline phosphatase (AP) are reported for each affected subject; the normal range is less than 120 units/l. PDB, Paget's disease of bone.
  2. aIndividuals strongly suspected to be potential PDB patients after careful reconstruction of the familial clinical history. bThese subjects received two treatment courses with oral risedronate (30 mg/day) for 3 months followed by a 112-day follow-up period without treatment [24]; complete normalization of serum AP levels and bone pain remission were observed in all these treated subjects. cTotal bone scintigraphy was not performed on this subject; the skeletal extent of PDB is on the basis of X-ray evaluations.