Sclerosing bone disorders

Best Practice and Research: Clinical Rheumatology

Volumn 22, Issue 1, 2008, Pages 71-83

  de Vernejoul, Marie Christine ^a  

^a INSERM   (France)

Author keywords

osteoblast; osteoclast; osteopetrosis; osteosclerosis

Indexed keywords

APC PROTEIN; AXIN; BETA CATENIN; BISPHOSPHONIC ACID DERIVATIVE; BONE MORPHOGENETIC PROTEIN; CARBONATE DEHYDRATASE II; CATHEPSIN K; CHLORIDE CHANNEL; GLUCOCORTICOID; GLYCOGEN SYNTHASE KINASE 3; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN 5; OSTEOCLAST DIFFERENTIATION FACTOR; TRANSFORMING GROWTH FACTOR BETA; TRANSFORMING GROWTH FACTOR BETA1; WNT PROTEIN;

ALBERS SCHOENBERG DISEASE; ARTHROPLASTY; BONE MARROW TRANSPLANTATION; BONE RADIOGRAPHY; BONE REMODELING; BONE SCINTISCANNING; CLINICAL FEATURE; DIAPHYSIS DYSPLASIA; DIFFERENTIAL DIAGNOSIS; DRUG DOSE REDUCTION; DRUG EFFICACY; DYSOSTOSIS; GENE DELETION; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HYPEROSTOSIS; LABORATORY DIAGNOSIS; ORTHOPEDIC SURGERY; OSSIFICATION; OSTEOBLAST; OSTEOCLAST; OSTEOGENESIS IMPERFECTA; OSTEOLYSIS; OSTEOMALACIA; OSTEOSCLEROSIS; PATHOPHYSIOLOGY; PREVALENCE; PRIORITY JOURNAL; REVIEW; SIGNAL TRANSDUCTION;

CAMURATI-ENGELMANN SYNDROME; HUMANS; MELORHEOSTOSIS; OSTEOARTHROPATHY, PRIMARY HYPERTROPHIC; OSTEOCLASTS; OSTEOPETROSIS; OSTEOSCLEROSIS; WNT PROTEINS;

EID: 40449106313     PISSN: 15216942     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.berh.2007.12.011     Document Type: Review

References (28)

1. Whyte M.P. Sclerosing bone disorders. Primers on the metabolic bone diseases and disorders of mineral metabolism. 6th edn. (2006), Lippincott-Raven, Philadelphia 398-414
2. Maroteaux P., and Lemerrer M. Maladies osseuses de l'enfant. 4th edn. (2002), Medecine et sciences Flammarion, Paris
3. Frattini A., Orchard P.J., Sobacchi C., et al. Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nature Genetics 25 (2000) 343-346
4. Kornak U., Kasper D., Bosl M.R., et al. Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. Cell 104 (2001) 205-215
5. Frattini A., Pangrazio A., Susani L., et al. Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. The Journal of Bone and Mineral Research 18 (2003) 1740-1747
6. Pangrazio A., Poliani P.L., Megarbane A., et al. Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement. The Journal of Bone and Mineral Research 21 (2006) 1098-1105
7. Sobacchi C., Frattini A., Guerrini M.M., et al. Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. Nature Genetics 39 (2007) 960-962
8. Benichou O.D., Laredo J.D., and de Vernejoul M.C. Type II autosomal dominant osteopetrosis (Albers-Schonberg disease): clinical and radiological manifestations in 42 patients. Bone 26 (2000) 87-93
9. Waguespack S.G., Hui S.L., Dimeglio L.A., and Econs M.J. Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation. Journal of Clinical Endocrinology and Metabolism 92 (2007) 771-778
10. Cleiren E., Benichou O., van Hul E., et al. Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. Human Molecular Genetics 10 (2001) 2861-2867
11. Maroteaux P., and Lamy M. The malady of Toulouse-Lautrec. Journal of the American Medical Association 191 (1965) 715-717
12. Gelb B.D., Shi G.P., Chapman H.A., and Desnick R.J. Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science 273 (1996) 1236-1238
13. Sly W.S., Whyte M.P., Sundaram V., et al. Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. The New England Journal of Medicine 313 (1985) 139-145
14. Janssens K., Vanhoenacker F., Bonduelle M., et al. Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. Journal of Medical Genetics 43 (2006) 1-11
15. Janssens K., Gershoni-Baruch R., Guanabens N., et al. Mutations in the gene encoding the latency-associated peptide of TGF-β1 cause Camurati-Engelmann disease. Nature Genetics 26 (2000) 273-275
16. Hellemans J., Preobrazhenska O., Willaert A., et al. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nature Genetics 36 (2004) 1213-1218
17. Krishnan V., Bryant H.U., and Macdougald O.A. Regulation of bone mass by Wnt signaling. The Journal of Clinical Investigation 116 (2006) 1202-1209
18. Li X., Zhang Y., Kang H., et al. Sclerostin binds to LRP5/6 and antagonizes canonical Wnt signaling. Journal of Biological Chemistry 280 (2005) 19883-19887
19. Brunkow M.E., Gardner J.C., van Ness J., et al. Bone dysplasia sclerostenosis results from loss of the SOST gene product, a novel cystine knot-containing protein. American Journal of Human Genetics 68 (2001) 577-589
20. Loots G.G., Kneissel M., Keller H., et al. Genomic deletion of a long-range bone enhancer misregulates sclerostin in van Buchem disease. Genome Research 15 (2005) 928-935
21. Boyden L.M., Mao J., Belsky J., et al. High bone density due to a mutation in LDL-receptor-related protein 5. The New England Journal of Medicine 346 (2002) 1513-1521
22. Little R.D., Carulli J.P., Del Mastro R.G., et al. A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait. American Journal of Human Genetics 70 (2002) 11-19
23. Van Wesenbeeck L., Cleiren E., Gram J., et al. Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. American Journal of Human Genetics 72 (2003) 763-771
24. Viot G., Lacombe D., David A., et al. Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance. American Journal of Medical Genetics 107 (2002) 1-4
25. Whyte M.P., Fallon M.D., Murphy W.A., and Teitelbaum S.L. Axial osteomalacia: clinical, laboratory and genetic investigation of an affected mother and son. American Journal of Medicine 71 (1981) 1041-1049
26. Cortet B., Berniere L., Solau-Gervais E., et al. Axial osteomalacia with sacroiliitis and moderate phosphate diabetes: report of a case. Clinical and Experimental Rheumatology 18 (2000) 625-628
27. Lang R., Vignery A.M., and Jenson P.S. Fibrogenesis imperfecta ossium with early onset: observations after 20 years of illness. Bone 7 (1986) 237-246
28. Rimoin D.L. Pachydermoperiostosis (idiopathic clubbing and periostosis). Genetic and physiologic considerations. The New England Journal of Medicine 272 (1965) 923-931