Defective O-glycosylation due to a novel homozygous S129P mutation is associated with lack of fibroblast growth factor 23 secretion and tumoral calcinosis

Journal of Clinical Endocrinology and Metabolism

Volumn 94, Issue 11, 2009, Pages 4267-4274

  Bergwitz, Clemens ^a   Banerjee, Santanu ^a   Abu Zahra, Hilal ^a   Kaji, Hiroshi ^b   Miyauchi, Akimitsu ^c   Sugimoto, Toshitsugu ^d   Jüppner, Harald ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c Japan   (Japan)

^d SHIMANE UNIVERSITY FACULTY OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ACETAZOLAMIDE; ALUMINUM HYDROXIDE; CREATININE; FIBROBLAST GROWTH FACTOR 23; GLYCOPROTEIN; NITROGEN; PHOSPHATE; PROLINE; SERINE; UREA;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CASE REPORT; CELL LYSATE; CELL STRAIN HEK293; CODON USAGE; CREATININE BLOOD LEVEL; CYTOKINE RELEASE; DIET RESTRICTION; EMBRYO; EXON; EXPRESSION VECTOR; GENE CONSTRUCT; HOMOZYGOTE; HUMAN; HUMAN CELL; HYPERPHOSPHATEMIA; IN VITRO STUDY; INFANT; KIDNEY CALCIFICATION; KIDNEY DYSFUNCTION; LABORATORY TEST; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PHOSPHATE BLOOD LEVEL; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN GLYCOSYLATION; TUMOR CALCINOSIS; UREA NITROGEN BLOOD LEVEL; WESTERN BLOTTING; WILD TYPE;

CAPRA HIRCUS;

EID: 70449124261     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-0961     Document Type: Article

References (26)

1. Giard JM 1998 Sur la calcifcation hibernale. Compes Rend Seanes Soc Biol So 34:1013-1015
2. Duret MH 1899 Tumeurs multiples et singulieres des bourses sereuses. Bull Mem Soc Ant Paris 74:725-731
3. Eddy MC, Jan De Beur SM, Yandow SM, McAlister WH, Shore EM, Kaplan FS, Whyte MP, Levine MA 2000 Deficiency of the α-subunit of the stimulatory G protein and severe extraskeletal ossification. J Bone Miner Res 15:2074-2083
4. Topaz O, Shurman DL, Bergman R, Indelman M, Ratajczak P, Mizrachi M, Khamaysi Z, Behar D, Petronius D, Friedman V, Zelikovic I, Raimer S, Metzker A, Richard G, Sprecher E 2004 Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. Nat Genet 36:579-581 (Pubitemid 38715983)
5. Kato K, Jeanneau C, Tarp MA, Benet-Pagès A, Lorenz-Depiereux B, Bennett EP, Mandel U, Strom TM, Clausen H 2006 Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation. J Biol Chem 281:18370-18377 (Pubitemid 44035494)
6. Benet-Pagès A, Orlik P, Strom TM, Lorenz-Depiereux B 2005 An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. Hum Mol Genet 14:385-390 (Pubitemid 40220655)
7. Ichikawa S, Lyles KW, Econs MJ 2005 A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive. J Clin Endocrinol Metab 90:2420-2423 (Pubitemid 40590063)
8. Larsson T, Davis SI, Garringer HJ, Mooney SD, Draman MS, Cullen MJ, White KE 2005 Fibroblast growth factor-23 mutants causing familial tumoral calcinosis are differentially processed. Endocrinology 146:3883-3891 (Pubitemid 41178968)
9. Ichikawa S, Imel EA, Kreiter ML, Yu X, Mackenzie DS, Sorenson AH, Goetz R, Mohammadi M, White KE, Econs MJ 2007 A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. J Clin Invest 117:2684-2691 (Pubitemid 47494368)
10. Segawa H, Yamanaka S, Ohno Y, Onitsuka A, Shiozawa K, Aranami F, Furutani J, Tomoe Y, Ito M, Kuwahata M, Imura A, Nabeshima Y, Miyamoto K 2007 Correlation between hyperphosphatemia and type II Na-Pi cotransporter activity in klotho mice. Am J Physiol Renal Physiol 292:F769-F779 (Pubitemid 46220545)
11. Baum M, Schiavi S, Dwarakanath V, Quigley R 2005 Effect of fibroblast growth factor-23 on phosphate transport in proximal tubules. Kidney Int 68:1148-1153 (Pubitemid 43246431)
12. Segawa H, Onitsuka A, Furutani J, Kaneko I, Aranami F, Matsumoto N, Tomoe Y, Kuwahata M, Ito M, Matsumoto M, Li M, Amizuka N, Miyamoto K Npt2a and Npt2c in mice play distinct and synergistic roles in inorganic phosphate metabolism and skeletal development. Am J Physiol Renal Physiol 297:F671-F678
13. Strom TM, Jüppner H 2008 PHEX, FGF23, DMP1 and beyond. Curr Opin Nephrol Hypertens 17:357-362
14. Liu S, Gupta A, Quarles LD 2007 Emerging role of fibroblast growth factor 23 in a bone-kidney axis regulating systemic phosphate homeostasis and extracellular matrix mineralization. Curr Opin Nephrol Hypertens 16:329-335 (Pubitemid 46944331)
15. Fukumoto S, Yamashita T 2007 FGF23 is a hormone-regulating phosphate metabolism - unique biological characteristics of FGF23. Bone 40:1190-1195 (Pubitemid 46550981)
16. Yamazaki Y, Tamada T, Kasai N, Urakawa I, Aono Y, Hasegawa H, Fujita T, Kuroki R, Yamashita T, Fukumoto S, Shimada T 2008 Anti-FGF23 neutralizing antibodies show the physiological role and structural features of FGF23. J Bone Miner Res 23:1509-1518
17. Shimada T, Muto T, Urakawa I, Yoneya T, Yamazaki Y, Okawa K, Takeuchi Y, Fujita T, Fukumoto S, Yamashita T 2002 Mutant FGF-23 responsible for autosomal dominant hypophosphatemic rickets is resistant to proteolytic cleavage and causes hypophosphatemia in vivo. Endocrinology 143:3179-3182 (Pubitemid 34809892)
18. Frishberg Y, Ito N, Rinat C, Yamazaki Y, Feinstein S, Urakawa I, Navon-Elkan P, Becker-Cohen R, Yamashita T, Araya K, Igarashi T, Fujita T, Fukumoto S 2007 Hyperostosis-hyperphosphatemia syndrome: a congenital disorder of O-glycosylation associated with augmented processing of fibroblast growth factor 23. J Bone Miner Res 22:235-242 (Pubitemid 46167794)
19. Garringer HJ, Malekpour M, Esteghamat F, Mortazavi SM, Davis SI, Farrow EG, Yu X, Arking DE, Dietz HC, White KE 2008 Molecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosis. Am J Physiol Endocrinol Metab 295:E929-E937
20. Masi L, Gozzini A, Franchi A, Campanacci D, Amedei A, Falchetti A, Franceschelli F, Marcucci G, Tanini A, Capanna R, Brandi ML 2005 A novel recessive mutation in fibroblast growth factor-23 (FGF23) causes a tumoral calcinosis. J Bone Surg Am 91:1190-1198
21. Larsson T, Yu X, Davis SI, Draman MS, Mooney SD, Cullen MJ, White KE 2005 A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis. J Clin Endocrinol Metab 90:2424-2427 (Pubitemid 40586293)
22. Chefetz I, Heller R, Galli-Tsinopoulou A, Richard G, Wollnik B, Indelman M, Koerber F, Topaz O, Bergman R, Sprecher E, Schoenau E 2005 A novel homozygous missense mutation in FGF23 causes familial tumoral calcinosis associated with disseminated visceral calcification. Hum Genet 118:261-266 (Pubitemid 41672088)
23. Araya K, Fukumoto S, Backenroth R, Takeuchi Y, Nakayama K, Ito N, Yoshii N, Yamazaki Y, Yamashita T, Silver J, Igarashi T, Fujita T 2005 A novel mutation in fibroblast growth factor 23 gene as a cause of tumoral calcinosis. J Clin Endocrinol Metab 90:5523-5527 (Pubitemid 41415453)
24. Yamaguchi T, Sugimoto T, Imai Y, Fukase M, Fujita T, Chihara K 1995 Successful treatment of hyperphosphatemic tumoral calcinosis with long-term acetazolamide. Bone 16(Suppl 4):247S-250S
25. Jaeken J 2003 Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it! J Inherit Metab Dis 26:99-118 (Pubitemid 36889736)
26. Goetz R, Beenken A, Ibrahimi OA, Kalinina J, Olsen SK, Eliseenkova AV, Xu C, Neubert TA, Zhang F, Linhardt RJ, Yu X, White KE, Inagaki T, Kliewer SA, Yamamoto M, Kurosu H, Ogawa Y, Kuro-o M, Lanske B, Razzaque MS, Mohammadi M 2007 Molecular insights into the klotho-dependent, endocrine mode of action of fibroblast growth factor 19 subfamily members. Mol Cell Biol 27:3417-3428 (Pubitemid 46685217)