A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis

Ichikawa, Shoji; A. Imel, Erik; L. Kreiter, Mary; Yu, Xijie; S. Mackenzie, Donald; H. Sorenson, Andrea; Goetz, Regina; Mohammadi, Moosa; E. White, Kenneth; J. Econs, Michael

doi:10.1172/jci31330

Public

A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis

Published in Journal of Clinical Investigation • Aug 16, 2007

Authors:

Shoji Ichikawa

Erik A. Imel

Mary L. Kreiter

Abstract

Familial tumoral calcinosis is characterized by ectopic calcifications and hyperphosphatemia due to inactivating mutations in FGF23 or UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GALNT3). Herein we report a homozygous missense mutation (H193R) in the KLOTHO (K...

Subject

Missense mutation

Klotho

Fibroblast growth factor 23

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