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Article

Clinical and Functional Characterization of Novel GALNT3 Mutations in a Chinese Child with Hyperphosphatemic Familial Tumoral Calcinosis.

International journal of molecular sciences - 18 Mar 2026

Gao Yuan, Zhang Cai, Wu Shimin, Ying Yanqin, Hou Ling, Liang Yan, Luo Xiaoping

Abstract excerpt

Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive disorder characterized by hyperphosphatemia and ectopic calcifications. Mutations in GALNT3, which encodes a key enzyme responsible for O-glycosylation of FGF23, represent a major genetic cause of HFTC. This modification is essential for the stability and secretion of FGF23. We investigated a 4-year and 6-month-old Chinese girl...

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Source

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Identifiers

PMID: 41898628
DOI: 10.3390/ijms27062767
PMCID: PMC13026893

Genes

FGF23
GALNT3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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