Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 24-02-2016
Symbol PDB8
Location 1q21.3
Name Paget bone disease 8, with giant cell tumor of bone
Corresponding gene ZNF687
Main clinical features
  • focal abnormalities of bone remodeling, which result in enlarged and deformed bones in one or more regions of the skeleton
  • pagetic tissue undergoes neoplastic transformation, resulting in giant cell tumor of bone (GCT)
  • severe PDB, sometimes complicated by GCT, in the presence of an impaired response to antiresorptive treatment (PMID: 26849110))
  • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    Type disease
  • c.2810C>G acts as gain-of-function mutation, altering the nuclear-cytoplasmic balance of ZNF687, thus leading to enhanced availability of this transcription factor in the nucleus (PMID: 26849110))