Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis

Orit Topaz; Daniel L. Shurman; Reuven Bergman; Margarita Indelman; Paulina Ratajczak; Mordechai Mizrachi; Ziad Khamaysi; Doron Behar; Dan Petronius; Vered Friedman; Israel Zelikovic; Sharon Raimer; Arieh Metzker; Gabriele Richard; Eli Sprecher

doi:10.1038/ng1358

Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis

Orit Topaz, Daniel L. Shurman, Reuven Bergman, Margarita Indelman, Paulina Ratajczak, Mordechai Mizrachi, Ziad Khamaysi, Doron Behar, Dan Petronius, Vered Friedman, Israel Zelikovic, Sharon Raimer, Arieh Metzker, Gabriele Richard, Eli Sprecher

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495 Scopus citations

Abstract

Familial tumoral calcinosis (FTC; OMIM 211900) is a severe autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Using linkage analysis, we mapped the gene underlying FTC to 2q24-q31. This region includes the gene GALNT3, which encodes a glycosyltransferase responsible for initiating mucin-type O-glycosylation. Sequence analysis of GALNT3 identified biallelic deleterious mutations in all individuals with FTC, suggesting that defective post-translational modification underlies the disease.

Original language	English (US)
Pages (from-to)	579-581
Number of pages	3
Journal	Nature Genetics
Volume	36
Issue number	6
DOIs	https://doi.org/10.1038/ng1358
State	Published - Jun 2004
Externally published	Yes

ASJC Scopus subject areas

Genetics

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Topaz, O., Shurman, D. L., 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. Nature Genetics, 36(6), 579-581. https://doi.org/10.1038/ng1358

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', Nature Genetics, vol. 36, no. 6, pp. 579-581. https://doi.org/10.1038/ng1358

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title = "Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis",

abstract = "Familial tumoral calcinosis (FTC; OMIM 211900) is a severe autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Using linkage analysis, we mapped the gene underlying FTC to 2q24-q31. This region includes the gene GALNT3, which encodes a glycosyltransferase responsible for initiating mucin-type O-glycosylation. Sequence analysis of GALNT3 identified biallelic deleterious mutations in all individuals with FTC, suggesting that defective post-translational modification underlies the disease.",

author = "Orit Topaz and Shurman, {Daniel L.} and Reuven Bergman and Margarita Indelman and Paulina Ratajczak and Mordechai Mizrachi and Ziad Khamaysi and Doron Behar and Dan Petronius and Vered Friedman and Israel Zelikovic and Sharon Raimer and Arieh Metzker and Gabriele Richard and Eli Sprecher",

note = "Funding Information: We thank the families with FTC for participating in this study, H. Sprecher and I. Avidor for their help with the FGF23 ELISA assay and R. Fuhrer-Mor for DNA sequencing services. This study was supported in part by the Technion Research Fund (E.S.), the Chief Scientist Office-Israeli Ministry of Health (E.S. and R.B.) and grants from the US National Institutes of Health, National Institute of Arthritis and Musculoskeletal and Skin Diseases (G.R.).",

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AU - Topaz, Orit

AU - Shurman, Daniel L.

AU - Bergman, Reuven

AU - Indelman, Margarita

AU - Ratajczak, Paulina

AU - Mizrachi, Mordechai

AU - Khamaysi, Ziad

AU - Behar, Doron

AU - Petronius, Dan

AU - Friedman, Vered

AU - Zelikovic, Israel

AU - Raimer, Sharon

AU - Metzker, Arieh

AU - Richard, Gabriele

AU - Sprecher, Eli

N1 - Funding Information: We thank the families with FTC for participating in this study, H. Sprecher and I. Avidor for their help with the FGF23 ELISA assay and R. Fuhrer-Mor for DNA sequencing services. This study was supported in part by the Technion Research Fund (E.S.), the Chief Scientist Office-Israeli Ministry of Health (E.S. and R.B.) and grants from the US National Institutes of Health, National Institute of Arthritis and Musculoskeletal and Skin Diseases (G.R.).

PY - 2004/6

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N2 - Familial tumoral calcinosis (FTC; OMIM 211900) is a severe autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Using linkage analysis, we mapped the gene underlying FTC to 2q24-q31. This region includes the gene GALNT3, which encodes a glycosyltransferase responsible for initiating mucin-type O-glycosylation. Sequence analysis of GALNT3 identified biallelic deleterious mutations in all individuals with FTC, suggesting that defective post-translational modification underlies the disease.

AB - Familial tumoral calcinosis (FTC; OMIM 211900) is a severe autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Using linkage analysis, we mapped the gene underlying FTC to 2q24-q31. This region includes the gene GALNT3, which encodes a glycosyltransferase responsible for initiating mucin-type O-glycosylation. Sequence analysis of GALNT3 identified biallelic deleterious mutations in all individuals with FTC, suggesting that defective post-translational modification underlies the disease.

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Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis

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