Hyperostosis-hyperphosphatemia syndrome (HHS): report of two cases with a recurrent mutation and review of the literature

References

1. Melhem RE, Najjar SS, Khachadurian AK. Cortical hyperostosis with hyperphosphatemia: a new syndrome? J Pediatr 1970;77:986–90.10.1016/S0022-3476(70)80081-6Search in Google Scholar

2. Narchi H. Hyperostosis with hyperphosphatemia: evidence of familial occurrence and association with tumoral calcinosis. Pediatrics 1997;99:745–8.10.1542/peds.99.5.745Search in Google Scholar

3. Mikati MA, Melhem RE, Najjar SS. The syndrome of hyperostosis and hyperphosphatemia. J Pediatr 1981;99:900–4.10.1016/S0022-3476(81)80013-3Search in Google Scholar

4. Nithyananth M, Cherian V, Paul T, Seshadri M. Hyperostosis and hyperphosphataemia syndrome: a diagnostic dilemma. Singapore Med J 2008;49:e350–e2.Search in Google Scholar

5. Talab YA, Mallouh A. Hyperostosis with hyperphosphatemia: a case report and review of the literature. J Pediatr Orthoped 1988;8:338–41.10.1097/01241398-198805000-00016Search in Google Scholar

6. Ichikawa S, Guigonis V, Imel EA, Courouble M, Heissat S, et al. Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations. J Clin Endocrinol Metab 2007;92:1943–7.10.1210/jc.2006-1825Search in Google Scholar PubMed

7. Joseph L, Hing SN, Presneau N, O’Donnell P, Diss T, et al. Familial tumoral calcinosis and hyperostosis–hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3. Skeletal Radiol 2010;39:63–8.10.1007/s00256-009-0808-5Search in Google Scholar PubMed

8. Chefetz I, Sprecher E. Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis. BBA-Mol Basis Dis 2009;1792:847–52.10.1016/j.bbadis.2008.10.008Search in Google Scholar PubMed PubMed Central

9. Frishberg Y, Ito N, Rinat C, Yamazaki Y, Feinstein S, et al. Hyperostosis–hyperphosphatemia syndrome: a congenital disorder of O-glycosylation associated with augmented processing of fibroblast growth factor 23. J Bone Miner Res 2007;22:235–42.10.1359/jbmr.061105Search in Google Scholar PubMed

10. Topaz O, Shurman DL, Bergman R, Indelman M, Ratajczak P, et al. Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. Nat Genet 2004;36:579–81.10.1038/ng1358Search in Google Scholar PubMed

11. Ichikawa S, Lyles KW, Econs MJ. A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive. J Clin Endocrinol Metab 2005;90:2420–3.10.1210/jc.2004-2302Search in Google Scholar PubMed

12. Campagnoli M, Pucci A, Garelli E, Carando A, Defilippi C, et al. Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family. J Clin Path 2006;59:440–2.10.1136/jcp.2005.026369Search in Google Scholar PubMed PubMed Central

13. Specktor P, Cooper JG, Indelman M, Sprecher E. Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred. J Hum Genet 2006;51:487–90.10.1007/s10038-006-0377-6Search in Google Scholar PubMed

14. Garringer HJ, Fisher C, Larsson TE, Davis SI, Koller DL, et al. The role of mutant UDP-N-acetyl-α-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 2006;91:4037–42.10.1210/jc.2006-0305Search in Google Scholar PubMed

15. Ichikawa S, Imel EA, Sorenson AH, Severe R, Knudson P, et al. Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene. J Clin Endocrinol Metab 2006;91:4472–5.10.1210/jc.2006-1247Search in Google Scholar PubMed

16. Garringer HJ, Mortazavi SM, Esteghamat F, Malekpour M, Boztepe H, et al. Two novel GALNT3 mutations in familial tumoral calcinosis. Am J Med Genet Part A 2007;143:2390–6.10.1002/ajmg.a.31947Search in Google Scholar PubMed

17. Barbieri AM, Filopanti M, Bua G, Beck-Peccoz P. Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis. J Hum Genet 2007;52:464–8.10.1007/s10038-007-0126-5Search in Google Scholar PubMed

18. Laleye A, Alao MJ, Gbessi G, Adjagba M, Marche M, et al. Tumoral calcinosis due to GALNT3 C.516-2A >T mutation in a black African family. Genet Couns 2008;19:183–92.Search in Google Scholar

19. Ichikawa S, Baujat G, Seyahi A, Garoufali AG, Imel EA, et al. Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. Am J Med Genet Part A 2010;152:896–903.10.1002/ajmg.a.33337Search in Google Scholar PubMed PubMed Central

20. Yancovitch A, Hershkovitz D, Indelman M, Galloway P, Whiteford M, et al. Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis. J Bone Miner Metab 2011;29:621–5.10.1007/s00774-011-0260-1Search in Google Scholar PubMed

21. Larsson T, Davis SI, Garringer HJ, Mooney SD, Draman MS, et al. Fibroblast growth factor-23 mutants causing familial tumoral calcinosis are differentially processed. Endocrinology 2005;146:3883–91.10.1210/en.2005-0431Search in Google Scholar PubMed

22. Chefetz I, Heller R, Galli-Tsinopoulou A, Richard G, Wollnik B, et al. A novel homozygous missense mutation in FGF23 causes familial tumoral calcinosis associated with disseminated visceral calcification. Hum Genet 2005;118:261–6.10.1007/s00439-005-0026-8Search in Google Scholar PubMed

23. Araya K, Fukumoto S, Backenroth R, Takeuchi Y, Nakayama K, et al. A novel mutation in fibroblast growth factor 23 gene as a cause of tumoral calcinosis. J Clin Endocrinol Metab 2005;90:5523–7.10.1210/jc.2005-0301Search in Google Scholar PubMed

24. Garringer HJ, Malekpour M, Esteghamat F, Mortazavi SM, Davis SI, et al. Molecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosis. Am J Physiol Endocrinol Metab 2008;295:E929–37.10.1152/ajpendo.90456.2008Search in Google Scholar PubMed PubMed Central

25. Lammoglia JJ, Mericq V. 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 Paediatr 2009;71:178–84.10.1159/000197876Search in Google Scholar PubMed

26. Masi L, Gozzini A, Franchi A, Campanacci D, Amedei A, et al. A novel recessive mutation of fibroblast growth factor-23 in tumoral calcinosis. J Bone Joint Surg Am 2009;91:1190–8.10.2106/JBJS.H.00783Search in Google Scholar PubMed

27. Bergwitz C, Banerjee S, Abu-Zahra H, Kaji H, Miyauchi A, et al. 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 2009;94:4267–74.10.1210/jc.2009-0961Search in Google Scholar PubMed PubMed Central

28. Olauson H, Krajisnik T, Larsson C, Lindberg B, Larsson TE. A novel missense mutation in GALNT3 causing hyperostosis–hyperphosphataemia syndrome. Eur J Endocrinol 2008;158:929–34.10.1530/EJE-08-0011Search in Google Scholar PubMed

29. Gok F, Chefetz I, Indelman M, Kocaoglu M, Sprecher E. Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome. Acta Orthop 2009;80:131–4.10.1080/17453670902807482Search in Google Scholar PubMed PubMed Central

30. Abbasi F, Ghafouri-Fard S, Javaheri M, Dideban A, Ebrahimi A, et al. A new missense mutation in FGF23 gene in a male with hyperostosis-hyperphosphatemia syndrome (HHS). Gene 20141;542:269–71.10.1016/j.gene.2014.03.052Search in Google Scholar PubMed

31. Dumitrescu CE, Kelly MH, Khosravi A, Hart TC, Brahim J, et al. A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features. Osteoporos Int 2009;20:1273–8.10.1007/s00198-008-0775-zSearch in Google Scholar PubMed PubMed Central

32. Benet-Pagès A, Orlik P, Strom TM, Lorenz-Depiereux B. An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. Hum Mol Gen 2005;14:385–90.10.1093/hmg/ddi034Search in Google Scholar PubMed

33. Yamashita T, Yoshioka M, Itoh N. Identification of a novel fibroblast growth factor, FGF-23, preferentially expressed in the ventrolateral thalamic nucleus of the brain. Biochem Biophys Res Commun 2000;277:494–8.10.1006/bbrc.2000.3696Search in Google Scholar PubMed

34. Hori M, Shimizu Y, Fukumoto S. Minireview: fibroblast growth factor 23 in phosphate homeostasis and bone metabolism. Endocrinology 2011;152:4–10.10.1210/en.2010-0800Search in Google Scholar PubMed

35. Kurosu H, Ogawa Y, Miyoshi M, Yamamoto M, Nandi A, et al. Regulation of fibroblast growth factor-23 signaling by klotho. J Biol Chem 2006;281:6120–3.10.1074/jbc.C500457200Search in Google Scholar PubMed PubMed Central

36. Shimada T, Hasegawa H, Yamazaki Y, Muto T, Hino R, et al. FGF-23 is a potent regulator of vitamin D metabolism and phosphate homeostasis. J Bone Miner Res 2004;19:429–35.10.1359/JBMR.0301264Search in Google Scholar PubMed

37. Kato K, Jeanneau C, Tarp MA, Benet-Pagès A, Lorenz-Depiereux B, et al. Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis Secretion of fibroblast growth factor 23 requires O-glycosylation. J Biol Chem 2006;281:18370–7.10.1074/jbc.M602469200Search in Google Scholar PubMed