Idiopathic Hyperphosphatasia and TNFRSF11B Mutations: Relationships between Phenotype and Genotype

Journal of Bone and Mineral Research

Volumn 18, Issue 12, 2003, Pages 2095-2104

  Chong, Belinda ^a   Hegde, Madhuri ^b   Fawknier, Matthew ^a   Simonet, Scott ^c   Cassinelli, Hamilton ^d   Coker, Mahmut ^e   Kanis, John ^f   Seidel, Joerg ^g   Tau, Cristina ^h   Tüysüz, Beyhan ⁱ   Yüksel, Bilgin ^j   Love, Donald ^k   Cundy, Tim ^l  

^a AUCKLAND CITY HOSPITAL   (New Zealand)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c AMGEN INC   (United States)

^d Hospital de Niños R Gutiérrez   (Argentina)

^e EGE UNIVERSITY   (Turkey)

^f UNIVERSITY OF SHEFFIELD   (United Kingdom)

^g FRIEDRICH SCHILLER UNIVERSITY JENA   (Germany)

^h HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

ⁱ ISTANBUL UNIVERSITY   (Turkey)

^j CUKUROVA UNIVERSITY   (Turkey)

^k UNIVERSITY OF AUCKLAND   (New Zealand)

^l UNIVERSITY OF AUCKLAND   (New Zealand)

more..

Author keywords

Genetic bone disease; Idiopathic hyperphosphatasia; Juvenile Paget's disease; Osteoprotegerin; Phenotype genotype; TNFRSF11B gene

Indexed keywords

CYSTEINE; GENE PRODUCT; GENOMIC DNA; OSTEOPROTEGERIN;

ADOLESCENT; ADULT; ARTICLE; CARBOXY TERMINAL SEQUENCE; CHILD; CLINICAL ARTICLE; CONGENITAL BONE DISEASE; CONTROLLED STUDY; DISEASE SEVERITY; FAMILY; FEMALE; GENE; GENE DELETION; GENE FUNCTION; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IDIOPATHIC DISEASE; IDIOPATHIC HYPERPHOSPHATASIA; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PROTEIN DOMAIN; PROTEIN FUNCTION; RADIOGRAPHY; TNFRSF 11B GENE;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; BONE AND BONES; CHILD; DNA PRIMERS; EXONS; FEMALE; GENOTYPE; GLYCOPROTEINS; HUMANS; INTRONS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; OSTEITIS DEFORMANS; OSTEOPROTEGERIN; PEDIGREE; PHENOTYPE; RECEPTORS, CYTOPLASMIC AND NUCLEAR; RECEPTORS, TUMOR NECROSIS FACTOR;

EID: 10744230044     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.2003.18.12.2095     Document Type: Article

References (35)

1. Bakwin H, Eiger MS 1956 Fragile bones and macrocranium. J Pediatr 49:558-564.
2. Blanco O, Stivel M, Mautalen C, Schajowicz F 1977 Familial idiopathic hyperphosphatasia. J Bone Joint Surg Br 59:421-427.
3. Dunn V, Condon VR, Rallison ML 1979 Familial hyperphosphatasemia: Diagnosis in early infancy and response to human thyrocalcitonin therapy. Am J Roentgenol 132:541-545.
4. Singer F, Siris E, Shane E, Dempster D, Lindsay R, Parisien M 1994 Hereditary hyperphosphatasia: 20 years follow-up and response to disodium etidronate. J Bone Miner Res 9:733-738.
5. Mitsudo SM 1971 Chronic idiopathic hyperphosphatasia associated with pseudoxanthoma elasticum. J Bone Joint Surg Am 83: 303-314.
6. Eroglu M, Taneli NN 1976 Congenital hyperphosphatasia Ouvenile Paget's disease). Ann Radiol 20:145-150.
7. Demir E, Bereket A, Ozkan B, Topcu M 2000 Effect of alendronate treatment on the clinical picture and bone turnover markers in chronic idiopathic hyperphosphatasia. J Pediatr Endocrinol Metab 13:217-221.
8. Spindler A, Berman A, Mautalen C, Ubios J, Santini AE 1992 Chronic idiopathic hyperphosphatasia. Report of a case treated with pamidronate and a review of the literature. J Rheumatol 19:642-645.
9. Golob DS, McAlister WH, Mills BG, Fedde KN, Reinus WR, Teitelbaum SL, Beeki S, Whyte MP 1996 Juvenile Paget's disease: Life-long features in a mildly affected young woman. J Bone Miner Res 11:132-142.
10. Whyte MP, Obrecht SE, Finnegan PM, Jones JL, Podgornik MN, McAllister WH, Mumm S 2002 Osteoprotegerin deficiency and juvenile Paget's disease. N Engl J Med 247:175-184.
11. Cundy T, Hegde M, Naot D, Chong B, King A, Wallace R, Mulley J, Love DR, Seidel J, Fawkner M, Banovic T, Callon KE, Grey AB, Reid IR 2002 A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype. Hum Mol Genet 11:2119-2127.
12. Simonet WS, Lacey D, Dunstan CR, Kelley M, Chang MS, Luthy R, Nguyen HQ, Wooden S, Bennett L, Boone T, Shimamoto G, DeRose M, Elliott R, Colombero A, Tan HL, Trail G, Sullivan J, Dary E, Bucay N, Renshaw-Gregg L, Hughes TM, Hill D, Pattison W, Campbell P, Sander S, Van G, Tarpley J, Derby P, Lee R, Boyle WJ. 1997 Osteoprotegerin: A novel secreted protein involved in the regulation of bone density. Cell 89:309-319.
13. Yasuda H, Shima N, Nakagawa N, Mochizuki SI, Yano K, Fujise N, Sato Y, Goto M, Yamaguchi K, Kuriyama M, Kanno T, Murakami A, Tsuda E, Morinaga T, Higashio K 1998 Identity of osteoclastogenesis inhibitory factor (OCIF) and osteoprotegerin (OPG): A mechanism by which OPG/OCIF inhibits osteoclastogenesis in vitro. Endocrinology 39:1329-1337.
14. Cassinelli HR, Mautelen CA, Heinrich JJ, Miglietta A, Bergada C 1992 Familial idiopathic hyperphosphatasia: Response to long-term treatment with pamidronate. Bone Miner 19:175-184.
15. Roth AJ, Abendroth K, Seidel J, Neubert H, Venbrocks R 1996 Management of primary idiopathic hyperphosphatasia with calcitonin. Int Orthop 20:58-60.
16. Tüysüz B, Mercimek S, Unger S, Deniz M 1999 Calcitonin treatment in osteoectasia with hyperphosphatasia (juvenile Paget's disease). Pediatr Radiol 29:838-841.
17. Banner DW, D'Arcy A, Janes W, Gentz R, Schoenfeld HJ, Broger C, Loetscher H, Lesslauer W 1993 Crystal structure of the soluble human 55Kd TNF-receptor-human TNF complex: Implications for TNF receptor activation. Cell 73:431-445.
18. Yamaguchi K, Kinosaki M, Goto M, Kobayashi F, Tsuda E, Morinaga T, Higashio K 1998 Characterization of structural domains of human osteoclastogenesis inhibitory factor. J Biol Chem 273:5117-5123.
19. Mount SM 1982 A catalogue of splice junction sequences. Nucleic Acid Res 10:459-472.
20. Wuyts W, Van Wesenbeeck L, Morales-Piga A, Ralston S, Hocking L, Vanhoenacker F, Westhovens R, Verbruggen L, Anderson D, Hughes A, van Hul W 2001 Evaluation of the role of RANK and OPG genes in Paget's disease of bone. Bone 28:104-107.
21. Langdahl BL, Carstens M, Stenkjaer L, Eriksen EF 2002 Polymorphisms in the osteoprotegerin gene are associated with osteoporotic fractures. J Bone Miner Res 17:1245-1255.
22. De Costa C 2001 A place on the map. Lancet 357:878-879.
23. Doyle FH, Woodhouse NJY, Glen ACA, Joplin GF, MacIntyre I 1974 Healing of the bones in juvenile Paget's disease treated by human calcitonin. Br J Radiol 47:9-15.
24. Dohler JR, Souter WA 1986 Idiopathic hyperphosphatasia with dermal pigmentation. J Bone Joint Surg Br 68:305-310.
25. Pazzaglia UE, Barbieri D, Beluffi G, Bianchi E, Grana M, Rosso R, Varesco L 1989 Chronic idiopathic hyperphosphatasia and fibrous dysplasia in the same child. J Pediatr Orthop 9:709-716.
26. Antoniades K, Karakasis G, Lasaridis N, Tzarou V 1993 Chronic idiopathic hyperphosphatasemia. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 76:200-204.
27. Whyte MP, Hughes AE 2002 Expansile skeletal hyperphosphatasia is caused by a 15-base pair tandem duplication in TNFRSF11A encoding RANK and is allelic to familial expansile osteolysis. J Bone Miner Res 17:26-29.
28. Chosich N, Long F, Wong R, Topliss DJ, Stockigt JR 1991 Post-partum hypercalcemia in hereditary hyperphosphatasia (juvenile Paget's disease). J Endocrinol Invest 14:591-597.
29. Mizuno A, Amizuka N, Irie K, Murakami A, Fijise N, Kanno T, Sato Y, Nakagawa N, Yasuda H, Mochizuki S, Gomibuchi T, Yano K, Shima N, Washida N, Tsuda E, Morinaga T, Higashio K, Ozawa H 1998 Severe osteoporosis in mice lacking osteoclastogenesis inhibitory factor/osteoprotegerin. Biochem Biophys Res Commun 247:610-615.
30. Bucay N, Saropsi I, Dunstan CR, Morony S, Tarpley J, Capparelli C, Scully S, Tan HL, Xu W, Lacey DL, Boyle WJ, Simonet WS 1998 Osteoprotegerin-deficient mice develop early onset osteoporosis and arterial calcification. Genes Dev 12:1260-1268.
31. Stemmerman GN 1996 An histological and histochemical study of familial osteoectasia (chronic idiopathic hyperphosphatasia). Am J Pathol 48:641-651.
32. Silve C, Grosse B, Tau C, Garabedian M, Fritsch J, Delmas PD, Comot-Witmer G, Balsan S 1986 Response to parathyroid hormone and 1,25-dihydroxyvitamin D3 of bone-derived cells isolated from normal children and children with abnormalities in skeletal development. J Clin Endocrinol Metab 52:583-590.
33. Sharif KW, Doig WM, Kinsella FP 1989 Visual impairment in a case of juvenile Paget's disease with pseudoxanthoma elasticum. J Pediatr Ophthalmol Strabismus 26:299-302.
34. Min HS, Morony S, Sarosi I, Dunstan CR, Capparelli C, Scully S, Van G, Kaufman S, Kostenuik PJ, Lacey DL, Boyle WJ, Simonet WS 2000 Osteoprotegerin reverses osteoporosis by inhibiting endosteal osteoclasts and prevents vascular calcification by blocking a process resembling osteoclastogenesis. J Exp Med 192:463-474.
35. Hughes AE, Ralston SH, Marken J, Bell C, MacPherson H, Wallace RGH, van Hul W, Whyte MP, Nakatusa K, Hovy L, Anderson DM 2000 Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis. Nat Genet 24:45-48.