A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis

American Journal of Human Genetics

Volumn 79, Issue 4, 2006, Pages 759-764

  Topaz, Orit ^a   Indelman, Margarita ^a   Chefetz, Ilana ^a   Geiger, Dan ^a   Metzker, Aryeh ^b   Altschuler, Yoram ^c   Choder, Mordechai ^a   Bercovich, Dani ^d   Uitto, Jouni ^e   Bergman, Reuven ^a   Richard, Gabriele ^e,f   Sprecher, Eli ^a,g  

^a TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^b TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^c HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^d MIGAL GALILEE TECHNOLOGY CENTER   (Israel)

^e THOMAS JEFFERSON UNIVERSITY   (United States)

^f GENEDX   (United States)

^g Laboratory of Molecular Dermatology   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMIC ACID; GLYCOSYLTRANSFERASE; LYSINE; PHOSPHATE; PROTEIN;

ARTICLE; ATHEROSCLEROSIS; AUTOIMMUNE DISEASE; AUTOSOMAL RECESSIVE DISORDER; BONE INFECTION; CALCIFICATION; CHROMOSOME 7Q; CLINICAL ARTICLE; CONTROLLED STUDY; DELETION MUTANT; FAMILIAL DISEASE; FAMILIAL TUMOR CALCINOSIS; FAMILY; FEMALE; FGF23 GENE; GALNT3 GENE; GENE; GENE DELETION; GENE MAPPING; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HOMOZYGOSITY MAPPING; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERPHOSPHATEMIC FAMILIAL TUMOR CALCINOSIS; JEW; MALE; MUTATIONAL ANALYSIS; NORMOPHOSPHATEMIC FAMILIAL TUMOR CALCINOSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; RARE DISEASE; SAMD9 GENE; SKIN; SKIN INFECTION; SKIN ULCER; TUMOR CALCINOSIS;

EID: 33749015193     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/508069     Document Type: Article

References (23)

1. Atzeni F, Sarzi-Puttini P, Bevilacqua M (2006) Calcium deposition and associated chronic diseases (atherosclerosis, diffuse idiopathic skeletal hyperostosis, and others). Rheum Dis Clin North Am 32:413-426
2. Jono S, Shioi A, Ikari Y, Nishizawa Y (2006) Vascular calcification in chronic kidney disease. J Bone Miner Metab 24:176-181
3. White KE, Larsson TE, Econs MJ (2006) The roles of specific genes implicated as circulating factors involved in normal and disordered phosphate homeostasis: frizzled related protein-4, matrix extracellular phosphoglycoprotein, and fibroblast growth factor 23. Endocr Rev 27:221-241
4. Metzker A, Eisenstein B, Oren J, Samuel R (1988) Tumoral calcinosis revisited-common and uncommon features: report of ten cases and review. Eur J Pediatr 147:128-132
5. 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
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
7. 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
8. 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
9. 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
10. 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
11. 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
12. 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
13. Kato K, Jeanneau C, Tarp MA, Benet-Pages A, Lorenz-Depiereux B, Bennett EP, Mandel U, Strom TM, Clausen H (2006) Polypeptide GaINAc-transferase T3 and familial tumoral calcinosis: secretion of FGF23 requires O-glycosylation. J Biol Chem 281:18370-18377
14. 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 (erratum 83:240)
15. Silberstein M, Tzemach A, Dovgolevsky N, Fishelson M, Schuster A, Geiger D (2006) Online system for faster multipoint linkage analysis via parallel execution on thousands of personal computers. Am J Hum Genet 78:922-935
16. Reuber BE, Germain-Lee E, Collins CS, Morrell JC, Ameritunga R, Moser HW, Valle D, Gould SJ (1997) Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. Nat Genet 17:445-448
17. Schultz J, Ponting CP, Hofmann K, Bork P (1997) SAM as a protein interaction domain involved in developmental regulation. Protein Sci 6:249-253
18. Avigad S, Cohen BE, Bauer S, Schwartz G, Frydman M, Woo SL, Niny Y, Shiloh Y (1990) A single origin of phenylketonuria in Yemenite Jews. Nature 344:168-170
19. Touart DM, Sau P (1998) Cutaneous deposition diseases. Part II. J Am Acad Dermatol 39:527-544
20. Conlin PA, Jimenez-Quintero LP, Rapini RP (2002) Osteomas of the skin revisited: a clinicopathologic review of 74 cases. Am J Dermatopathol 24:479-483
21. Boulman N, Slobodin G, Rozenbaum M, Rosner I (2005) Calcinosis in rheumatic diseases. Semin Arthritis Rheum 34:805-812
22. Shao JS, Cai J, Towler DA (2006) Molecular mechanisms of vascular calcification lessons learned from the aorta. Arterioscler Thromb Vasc Biol 26:1423-1430
23. Stoll G, Bendszus M (2006) Inflammation and atherosclerosis: novel insights into plaque formation and destabilization. Stroke 37:1923-1932