Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations

American Journal of Medical Genetics, Part A

Volumn 152, Issue 4, 2010, Pages 896-903

  Ichikawa, Shoji ^a   Baujat, Geneviève ^b   Seyahi, Aksel ^c   Garoufali, Anastasia G ^d   Imel, Erik A ^a   Padgett, Leah R ^a   Austin, Anthony M ^a   Sorenson, Andrea H ^a   Pejin, Zagorka ^b   Topouchian, Vicken ^b   Quartier, Pierre ^b   Cormier Daire, Valerie ^b   Dechaux, Michele ^b   Malandrinou, Fotini Ch ^d   Singhellakis, Panagiotis N ^d   Le Merrer, Martine ^b   Econs, Michael J ^a  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c AMERICAN HOSPITAL   (Turkey)

^d SAINT SAVVAS HOSPITAL   (Greece)

Author keywords

FGF23; GALNT3; Hyperostosis Hyperphosphatemia syndrome; Phosphate; Tumoral calcinosis

Indexed keywords

25 HYDROXYVITAMIN D; ACETAZOLAMIDE; ACETYLSALICYLIC ACID; ALKALINE PHOSPHATASE; ALUMINUM HYDROXIDE; ANTIBIOTIC AGENT; CALCITRIOL; CALCIUM; CREATININE; FERROUS SULFATE; FIBROBLAST GROWTH FACTOR 23; GENOMIC DNA; IBUPROFEN; MAGNESIUM; METHOTREXATE; N ACETYLGALACTOSAMINYLTRANSFERASE; N ACETYLGALACTOSAMINYLTRANSFERASE 3; PARACETAMOL; PARATHYROID HORMONE; PHOSPHORUS; PROBENECID; RISEDRONIC ACID; SEVELAMER; UNCLASSIFIED DRUG; URIC ACID;

ADOLESCENT; ADULT; ALKALINE PHOSPHATASE BLOOD LEVEL; ANEMIA; ARTICLE; BONE BIOPSY; BONE RADIOGRAPHY; CALCIUM BLOOD LEVEL; CASE REPORT; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; CREATININE BLOOD LEVEL; DISEASE COURSE; DRUG DOSE REDUCTION; FAMILIAL DISEASE; FEMALE; FGF 23 GENE; FRAMESHIFT MUTATION; GALNT 3 GENE; GENE; GENE DELETION; GENE FUNCTION; HUMAN; HUMAN TISSUE; HYPEROSTOSIS; HYPEROSTOSIS HYPERPHOSPHATEMIA SYNDROME; HYPERPHOSPHATEMIA; LEG PAIN; MAGNESIUM BLOOD LEVEL; MALE; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OSTEOMYELITIS; PARATHYROID HORMONE BLOOD LEVEL; PHENOTYPIC VARIATION; PHOSPHATE BLOOD LEVEL; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN FUNCTION; SCHOOL CHILD; SYNDROME; TREATMENT RESPONSE; TUMOR CALCINOSIS; URIC ACID BLOOD LEVEL; VITAMIN BLOOD LEVEL;

ADOLESCENT; ADULT; BASE SEQUENCE; CALCINOSIS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; N-ACETYLGALACTOSAMINYLTRANSFERASES; NEOPLASMS; YOUNG ADULT;

EID: 77950395245     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33337     Document Type: Article

References (34)

1. 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)
2. Barbieri AM, Filopanti M, Bua G, Beck-Peccoz P. 2007. Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis. J Hum Genet 52:464-468. (Pubitemid 46669301)
3. 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)
4. Bergwitz C, Banerjee S, Abu-Zahra H, Kaji H, Miyauchi A, Sugimoto T, Juppner H. 2009. Defective O-glycosylation due to a novel homozygous S129P mutation is associated with lack of fibroblast growth factor 23 secretion and tumoral calcinosis. J Clin Endocrinol Metab 94:4267-4274.
5. Campagnoli MF, Pucci A, Garelli E, Carando A, Defilippi C, Lala R, Ingrosso G, Dianzani I, Forni M, Ramenghi U. 2006. Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family. J Clin Pathol 59:440-442.
6. 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. HumGenet 118:261-266. (Pubitemid 41672088)
7. Clarke E, Swischuk LE, Hayden CK Jr. 1984. Tumoral calcinosis, diaphysitis, and hyperphosphatemia. Radiology 151:643-646.
8. Dumitrescu CE, Kelly MH, Khosravi A, Hart TC, Brahim J, White KE, Farrow EG, Nathan MH, Murphey MD, Collins MT. 2009. A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features. Osteoporos Int 20:1273-1278.
9. Frishberg Y, Topaz O, Bergman R, Behar D, Fisher D,Gordon D, Richard G, Sprecher E. 2005. Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders. J Mol Med 83:33-38. (Pubitemid 40169494)
10. Garringer HJ, Fisher C, Larsson TE, Davis SI, Koller DL, Cullen MJ, Draman MS, Conlon N, Jain A, Fedarko NS, Dasgupta B, White KE. 2006. The role of mutant UDP-N-acetyl-alpha-D-galactosamine-polypeptide N- acetylgalactosaminyltransferase 3 in regulating serum intact fibroblast growth factor 23 and matrix extracellular phosphoglycoprotein in heritable tumoral calcinosis. J Clin Endocrinol Metab 91:4037-4042. (Pubitemid 44536883)
11. Garringer HJ, Mortazavi SMJ, Esteghamat F, Malekpour M, Boztepe H, Tanakol R, Davis SI, White KE. 2007. Two novel GALNT3 mutations in familial tumoral calcinosis. Am J Med Genet Part A 143A:2390-2396. (Pubitemid 47511930)
12. Garringer HJ, Malekpour M, Esteghamat F, Mortazavi SMJ, 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.
13. Ghanchi F, Ramsay A, Coupland S, Barr D, Lee WR. 1996. Ocular tumoral calcinosis. A clinicopathologic study. Arch Ophthalmol 114:341-345.
14. Gok F, Chefetz I, Indelman M, Kocaoglu M, Sprecher E. 2009. Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome. Acta Orthop 80:131-134.
15. 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)
16. Ichikawa S, Imel EA, Sorenson AH, Severe R, Knudson P, Harris GJ, Shaker JL, Econs MJ. 2006. Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene. J Clin Endocrinol Metab 91:4472-4475.
17. Ichikawa S, Guigonis V, Imel EA, Courouble M, Heissat S, Henley JD, Sorenson AH, Petit B, Lienhardt A, Econs MJ. 2007a. Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations. J Clin Endocrinol Metab 92:1943-1947. (Pubitemid 46997214)
18. Ichikawa S, Imel EA, Kreiter ML, Yu X, Mackenzie DS, Sorenson AH, Goetz R, Mohammadi M, White KE, Econs MJ. 2007b.Ahomozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. J Clin Invest 117:2684-2691. (Pubitemid 47494368)
19. Ichikawa S, Sorenson AH, Austin AM, Mackenzie DS, Fritz TA, Moh A, Hui SL, Econs MJ. 2009. Ablation of the Galnt3 gene leads to low-circulating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression. Endocrinology 150:2543-2550.
20. Joseph L, Hing SN, Presneau N, O'Donnell P, Diss T, Idowu BD, Joseph S, Flanagan AM, Delaney D. 2010. Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: Novel missense mutations in GALNT3. Skelet Radiol 39:63-68.
21. Kato K, Jeanneau C, Tarp MA, Benet-Pages 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)
22. Laleye A, Alao MJ, Gbessi G, Adjagba M, Marche M, Coupry I, Redonnet-Vernhet I, Lepreux S, Ayivi B, Darboux RB, Lacombe D, Arveiler B. 2008. Tumoral calcinosis due to GALNT3 C.516-2A >T mutation in a black African family. Genet Couns 19:183-192.
23. Lammoglia JJ, Mericq V. 2009. Familial tumoral calcinosis caused by a novel FGF23 mutation: Response to induction of tubular renal acidosis with acetazolamide and the non-calcium phosphate binder sevelamer. Horm Res 71:178-184.
24. Larsson T, Davis SI, Garringer HJ, Mooney SD, Draman MS, Cullen MJ, White KE. 2005a. Fibroblast growth factor-23 mutants causing familial tumoral calcinosis are differentially processed. Endocrinology 146:3883-3891. (Pubitemid 41178968)
25. Larsson T, Yu X, Davis SI, Draman MS, Mooney SD, Cullen MJ, White KE. 2005b. A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis. J Clin Endocrinol Metab 90:2424-2427. (Pubitemid 40586293)
26. Lyles KW, Burkes EJ, Ellis GJ, Lucas KJ, Dolan EA, Drezner MK. 1985. Genetic transmission of tumoral calcinosis: Autosomal dominant with variable clinical expressivity. J Clin Endocrinol Metab 60:1093-1096.
27. Masi L, Gozzini A, Franchi A, Campanacci D, Amedei A, Falchetti A, Franceschelli F, Marcucci G, Tanini A, Capanna R, Brandi ML. 2009. A novel recessive mutation of fibroblast growth factor-23 in tumoral calcinosis. J Bone Joint Surg Am 91:1190-1198.
28. McPhaul JJ Jr, Engel FL. 1961. Heterotopic calcification, hyperphosphatemia and angioid streaks of the retina. Am J Med 31:488-492.
29. Narchi H. 1997. Hyperostosis with hyperphosphatemia: Evidence of familial occurrence and association with tumoral calcinosis. Pediatrics 99:745-748. (Pubitemid 27193781)
30. Olauson H, Krajisnik T, Larsson C, Lindberg B, Larsson TE. 2008. A novel missense mutation in GALNT3 causing hyperostosis-hyperphosphataemia syndrome. Eur J Endocrinol 158:929-934.
31. Shetty GM, Murari AS, Shah SV, Dhengle S. 2009. Nonfamilial hyperphosphatemic tumoral calcinosis with ulnar neuropathy. Joint Bone Spine 76:198-201.
32. Specktor P, Cooper JG, Indelman M, Sprecher E. 2006. Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred. J Hum Genet 51:487-490. (Pubitemid 43863787)
33. 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)
34. Wilson MP, Lindsley CB, Warady BA, Johnson JA. 1989. Hyperphosphatemia associated with cortical hyperostosis and tumoral calcinosis. J Pediatr 114:1010-1013.