Idiopathic hyperphosphatasia and TNFRSF11B mutations: Relationships between phenotype and genotype


CHONG B., HEGDE M., FAWKNER M., SIMONET S., CASSINELLI H., COKER M., et al.

JOURNAL OF BONE AND MINERAL RESEARCH, cilt.18, ss.2095-2104, 2003 (SCI İndekslerine Giren Dergi)

  • Cilt numarası: 18 Konu: 12
  • Basım Tarihi: 2003
  • Doi Numarası: 10.1359/jbmr.2003.18.12.2095
  • Dergi Adı: JOURNAL OF BONE AND MINERAL RESEARCH
  • Sayfa Sayısı: ss.2095-2104

Özet

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.