Idiopathic hyperphosphatasia and TNFRSF11B mutations: Relationships between phenotype and genotype


Chong B., Hegde M., Fawkner M., Simonet S., Cassinelli H., Coker M. , ...More

JOURNAL OF BONE AND MINERAL RESEARCH, vol.18, no.12, pp.2095-2104, 2003 (Journal Indexed in SCI) identifier identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 18 Issue: 12
  • Publication Date: 2003
  • Doi Number: 10.1359/jbmr.2003.18.12.2095
  • Title of Journal : JOURNAL OF BONE AND MINERAL RESEARCH
  • Page Numbers: pp.2095-2104

Abstract

Introduction: Idiopathic hyperphosphatasia (IH) is a rare high bone turnover congenital bone disease in which affected children are normal at birth but develop progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and deafness. There is, however, considerable phenotypic variation from presentation in infancy with severe progressive deformity through to presentation in late childhood with minimal deformity. Two recent reports have linked idiopathic hyperphosphatasia with deletion of, or mutation in, the TNFRSF11B gene that encodes osteoprotegerin (OPG), an important paracrine modulator of RANKL-mediated bone resorption.