Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis

Journal of Bone and Mineral Metabolism

Volumn 29, Issue 5, 2011, Pages 621-625

  Yancovitch, Alan ^a   Hershkovitz, Dov ^a,b   Indelman, Margareta ^a   Galloway, Peter ^c   Whiteford, Margo ^c   Sprecher, Eli ^a,d   Kiliç, Esra ^e  

^a TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^b Institute of Pathology   (Israel)

^c ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^d TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^e HACETTEPE UNIVERSITY   (Turkey)

Author keywords

Extraosseous calcification; GALNT3; Hyperphosphatemic familial tumoral calcinosis; Mutation

Indexed keywords

GENOMIC DNA; PHOSPHATE;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANGIOID STREAK; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONSANGUINITY; CONTROLLED STUDY; EXON; FEMALE; GALNT3 GENE; GENE; GENETIC COUNSELING; GENETIC HETEROGENEITY; GENETIC RISK; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HYPERPHOSPHATEMIC FAMILIAL TUMOR CALCINOSIS; INTRON; MALE; MISSENSE MUTATION; PERIODONTAL DISEASE; PHENOTYPE; PHOSPHATE BLOOD LEVEL; PRIORITY JOURNAL; TUMOR CALCINOSIS;

ADULT; CALCINOSIS; FEMALE; HUMANS; HYPOPHOSPHATEMIA; MALE; MIDDLE AGED; MUTATION; N-ACETYLGALACTOSAMINYLTRANSFERASES; YOUNG ADULT;

EID: 83155192822     PISSN: 09148779     EISSN: 14355604     Source Type: Journal    
DOI: 10.1007/s00774-011-0260-1     Document Type: Article

References (25)

1. Alfrey AC (2004) The role of abnormal phosphorus metabolism in the progression of chronic kidney disease and metastatic calcification. Kidney Int Suppl 90:S13-S17 (Pubitemid 39121054)
2. Kruglyak L, Daly MJ, Lander ES (1995) Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping. Am J Hum Genet 56:519-527
3. Slavin RE, Wen J, Kumar D, Evans EB (1993) Familial tumoral calcinosis. A clinical, histopathologic, and ultrastructural study with an analysis of its calcifying process and pathogenesis. Am J Surg Pathol 17:788-802 (Pubitemid 23212011)
4. Liu S, Quarles LD (2007) How fibroblast growth factor 23 works. J Am Soc Nephrol 18:1637-1647 (Pubitemid 46870300)
5. Fukumoto S (2008) Physiological regulation and disorders of phosphate metabolism-pivotal role of fibroblast growth factor 23. Intern Med 47:337-343 (Pubitemid 351663682)
6. Imel EA, Econs MJ (2005) Fibroblast growth factor 23: roles in health and disease. J Am Soc Nephrol 16:2565-2575
7. 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)
8. 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)
9. Benet-Pages 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)
10. 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)
11. 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/hyperostosishyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features. Osteoporos Int 20:1273-1278
12. 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 (Pubitemid 44833425)
13. 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)
14. 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 (Pubitemid 351837383)
15. 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)
16. 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)
17. 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
18. 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. Skeletal Radiol 39:63-68
19. 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 (Pubitemid 351961205)
20. Garringer HJ, Mortazavi SM, 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 A 143A:2390-2396 (Pubitemid 47511930)
21. 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)
22. Ichikawa S, Guigonis V, Imel EA, Courouble M, Heissat S, Henley JD, Sorenson AH, Petit B, Lienhardt A, Econs MJ (2007) 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)
23. 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-Dgalactosamine- 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)
24. 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
25. Ichikawa S, Baujat G, Seyahi A, Garoufali AG, Imel EA, Padgett LR, Austin AM, Sorenson AH, Pejin Z, Topouchian V, Quartier P, Cormier-Daire V, Dechaux M, Malandrinou F, Singhellakis PN, Le Merrer M, Econs MJ (2010) Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. Am J Med Genet A 152A:896-903