A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification

Ilana Chefetz; Raoul Heller; Assimina Galli-Tsinopoulou; Gabriele Richard; Bernd Wollnik; Margarita Indelman; Friederike Koerber; Orit Topaz; Reuven Bergman; Eli Sprecher; Eckhard Schoenau

doi:10.1007/s00439-005-0026-8

A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification

Ilana Chefetz, Raoul Heller, Assimina Galli-Tsinopoulou, Gabriele Richard, Bernd Wollnik, Margarita Indelman, Friederike Koerber, Orit Topaz, Reuven Bergman, Eli Sprecher, Eckhard Schoenau

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104 Scopus citations

Abstract

Hyperphosphatemic Familial Tumoral Calcinosis (HFTC; MIM211900) is a rare autosomal recessive disorder characterized by the progressive deposition of calcified masses in cutaneous and subcutaneous tissues, associated with elevated circulating levels of phosphate. The disease was initially found to result from mutations in GALNT3 encoding a glycosyltransferase. However, more recently, the S71G missense mutation in FGF23, encoding a potent phosphaturic protein, was identified in two families. In the present report, we describe a second mutation in FGF23 underlying a severe case displaying calcifications of cutaneous and numerous extracutaneous tissues. The mutation (M96T) was found to affect a highly conserved methionine residue at position 96 of the protein. These observations illustrate the extent of genetic and phenotypic heterogeneity in HFTC.

Original language	English (US)
Pages (from-to)	261-266
Number of pages	6
Journal	Human Genetics
Volume	118
Issue number	2
DOIs	https://doi.org/10.1007/s00439-005-0026-8
State	Published - Nov 2005
Externally published	Yes

Bibliographical note

Funding Information:
Ackowledgements We acknowledge the family for having participated in the present study. We are grateful to V. Friedman for DNA sequencing services. This study was supported in part by grants provided by The Israeli Ministry of Health-Chief Scientist Office and by the General Trustee Fund.

Keywords

Calcinosis
Extraskeletal
FGF23
GALNT3
Mutation
Phosphate

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10.1007/s00439-005-0026-8

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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. Human Genetics, 118(2), 261-266. https://doi.org/10.1007/s00439-005-0026-8

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', Human Genetics, vol. 118, no. 2, pp. 261-266. https://doi.org/10.1007/s00439-005-0026-8

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abstract = "Hyperphosphatemic Familial Tumoral Calcinosis (HFTC; MIM211900) is a rare autosomal recessive disorder characterized by the progressive deposition of calcified masses in cutaneous and subcutaneous tissues, associated with elevated circulating levels of phosphate. The disease was initially found to result from mutations in GALNT3 encoding a glycosyltransferase. However, more recently, the S71G missense mutation in FGF23, encoding a potent phosphaturic protein, was identified in two families. In the present report, we describe a second mutation in FGF23 underlying a severe case displaying calcifications of cutaneous and numerous extracutaneous tissues. The mutation (M96T) was found to affect a highly conserved methionine residue at position 96 of the protein. These observations illustrate the extent of genetic and phenotypic heterogeneity in HFTC.",

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author = "Ilana Chefetz and Raoul Heller and Assimina Galli-Tsinopoulou and Gabriele Richard and Bernd Wollnik and Margarita Indelman and Friederike Koerber and Orit Topaz and Reuven Bergman and Eli Sprecher and Eckhard Schoenau",

note = "Funding Information: Ackowledgements We acknowledge the family for having participated in the present study. We are grateful to V. Friedman for DNA sequencing services. This study was supported in part by grants provided by The Israeli Ministry of Health-Chief Scientist Office and by the General Trustee Fund.",

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doi = "10.1007/s00439-005-0026-8",

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AU - Richard, Gabriele

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AU - Indelman, Margarita

AU - Koerber, Friederike

AU - Topaz, Orit

AU - Bergman, Reuven

AU - Sprecher, Eli

AU - Schoenau, Eckhard

N1 - Funding Information: Ackowledgements We acknowledge the family for having participated in the present study. We are grateful to V. Friedman for DNA sequencing services. This study was supported in part by grants provided by The Israeli Ministry of Health-Chief Scientist Office and by the General Trustee Fund.

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N2 - Hyperphosphatemic Familial Tumoral Calcinosis (HFTC; MIM211900) is a rare autosomal recessive disorder characterized by the progressive deposition of calcified masses in cutaneous and subcutaneous tissues, associated with elevated circulating levels of phosphate. The disease was initially found to result from mutations in GALNT3 encoding a glycosyltransferase. However, more recently, the S71G missense mutation in FGF23, encoding a potent phosphaturic protein, was identified in two families. In the present report, we describe a second mutation in FGF23 underlying a severe case displaying calcifications of cutaneous and numerous extracutaneous tissues. The mutation (M96T) was found to affect a highly conserved methionine residue at position 96 of the protein. These observations illustrate the extent of genetic and phenotypic heterogeneity in HFTC.

AB - Hyperphosphatemic Familial Tumoral Calcinosis (HFTC; MIM211900) is a rare autosomal recessive disorder characterized by the progressive deposition of calcified masses in cutaneous and subcutaneous tissues, associated with elevated circulating levels of phosphate. The disease was initially found to result from mutations in GALNT3 encoding a glycosyltransferase. However, more recently, the S71G missense mutation in FGF23, encoding a potent phosphaturic protein, was identified in two families. In the present report, we describe a second mutation in FGF23 underlying a severe case displaying calcifications of cutaneous and numerous extracutaneous tissues. The mutation (M96T) was found to affect a highly conserved methionine residue at position 96 of the protein. These observations illustrate the extent of genetic and phenotypic heterogeneity in HFTC.

KW - Calcinosis

KW - Extraskeletal

KW - FGF23

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KW - Mutation

KW - Phosphate

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A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification

Abstract

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