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. Author manuscript; available in PMC: 2012 Jul 10.
Published in final edited form as: Am J Med Genet A. 2010 Apr;152A(4):896–903. doi: 10.1002/ajmg.a.33337

Table II.

Mutations causing tumoral calcinosis and/or hyperostosis-hyperphosphatemia syndrome

Phenotype1 Gene Mutation2 Predicted Change Reference
TC GALNT3 c.1524+1G>A p.K465_Y508del3 [Topaz et al. 2004]
TC GALNT3 c.484C>T; c.1524+5G>A p.R162X; Splicing error [Topaz et al. 2004]
TC GALNT3 c.516-2A>T p.C173VfsX43 [Ichikawa et al. 2005]
TC GALNT3 c.484C>T; c.516-2A>T p.R162X; p.C173VfsX43 [Ichikawa et al. 2005]
TC GALNT3 c.1387A>T p.K463X [Campagnoli et al. 2006]
TC GALNT3 c.1774C>T p.Q592X [Specktor et al. 2006]
TC GALNT3 c.42_57del p.R14SfsX8 [Garringer et al. 2006]
TC GALNT3 c.815C>A; c.1076C>A p.T272K; p.T359K [Ichikawa et al. 2006]
TC GALNT3 c.1102_1103insT p.S368FfsX8 [Garringer et al. 2007]
TC GALNT3 c.1460G>A p.W487X [Garringer et al. 2007]
TC GALNT3 c.966T>G; c.1441C>T p.Y322X; p.Q481X [Barbieri et al. 2007]
TC GALNT3 c.516-2A>T p.C173VfsX44 [Laleye et al. 2008]
TC GALNT3 c.485G>A p.R162Q This study
TC FGF23 c.123C>A p.H41Q [Masi et al. 2009]
TC FGF23 c.211A>G p.S71G [Larsson et al. 2005b]
TC FGF23 c.287T>C p.M96T [Chefetz et al. 2005]
TC FGF23 c.385T>C p.S129P [Bergwitz et al. 2009]
TC FGF23 c.386C>T p.S129F [Araya et al. 2005]
TC FGF23 c.160C>A p.Q54K [Garringer et al. 2008]
TC FGF23 c.367G>T p.G123W [Lammoglia and Mericq 2009]
TC KL c.578A>G p.H193R [Ichikawa et al. 2007b]
HHS GALNT3 c.1524+1G>A p.K465_Y508del3 [Frishberg et al. 2005]
HHS GALNT3 c.803_804insC; c.1626+1G>A p.T269NfsX3; Splicing error [Ichikawa et al. 2007a]
HHS GALNT3 c.1313G>A p.R438H [Olauson et al. 2008]
HHS GALNT3 c.2T>A; c.839G>A p.M1?; p.C280Y [Gok et al. 2009]
HHS GALNT3 c.1392+1G>A Splicing error This study
TC/HHS GALNT3 c.1312C>T; c.1774C>T p.R438C; p.Q592X [Dumitrescu et al. 2009]
TC/HHS GALNT3 c.842A>G; c.1097T>G p.E281G; p.L366R [Joseph et al. 2010]
TC/HHS GALNT3 c.677delC p.A226VfsX3 This study
TC/HHS GALNT3 c.1720T>G p.C574G This study
TC/HHS FGF23 c.211A>G p.S71G [Benet-Pagès et al. 2005]
1

TC, tumoral calcinosis; HHS, hyperostosis-hyperphosphatemia syndrome.

2

Reported according to mutation nomenclature guidelines given by the Human Genome Variation Society (http://www.hgvs.org/mutnomen/): +1 is the A of the ATG start codon of the cDNA sequences (accession numbers: NM_020638 for FGF23, NM_004482 for GALNT3, and NM_004795 for KL). Some of the mutations are described differently from the original publications.

3

Based on RNA obtained from the affected patient [Topaz et al. 2004].

4

Based on RNA obtained from the affected patients [Laleye et al. 2008].