Paget disease of bone

Definition:

Paget disease of bone (PDB) are rare inherited osteolytic disorders that show phenotypic overlap. Patients with these diseases carry mutations in RANK/TNFRSF11A, OPG/TNFRSF11B or SQSTM1, resulting in activation of RANKL-RANK signaling axis with increases in bone resorption. Hearing impairment and tooth loss is common. Apart from juvenile-onset Paget's disease (PDB5), the condition is inherited as an autosomal dominant trait.

References:

[1]. A E Hughes, et al. Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis. Nat Genet. 2000 Jan;24(1):45-8. [Content Brief]

[2]. Giuseppina Divisato, et al. ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor. Am J Hum Genet. 2016 Feb 4;98(2):275-86. [Content Brief]

[3]. Michael P Whyte, et al. Osteoprotegerin deficiency and juvenile Paget's disease. N Engl J Med. 2002 Jul 18;347(3):175-84. [Content Brief]

[4]. Michael P Whyte, et al. Paget's disease of bone and genetic disorders of RANKL/OPG/RANK/NF-kappaB signaling. Ann N Y Acad Sci. 2006 Apr;1068:143-64. [Content Brief]

[5]. Nancy Laurin, et al. Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone. Am J Hum Genet. 2002 Jun;70(6):1582-8. [Content Brief]

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