Idiopathic hyperphosphatasia and TNFRSF11B mutations: Relationships between phenotype and genotype

CHONG B., HEGDE M., FAWKNER M., SIMONET S., CASSINELLI H., COKER M., ...Daha Fazla

JOURNAL OF BONE AND MINERAL RESEARCH, cilt.18, sa.12, ss.2095-2104, 2003 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 18 Sayı: 12
  • Basım Tarihi: 2003
  • Doi Numarası: 10.1359/jbmr.2003.18.12.2095
  • Dergi Adı: JOURNAL OF BONE AND MINERAL RESEARCH
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.2095-2104
  • İstanbul Üniversitesi Adresli: Evet

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.