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Article

Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

PloS one - 1 Jan 2013

Claverie-Martín Félix, García-Nieto Víctor, Loris Cesar, Ariceta Gema, Nadal Inmaculada, Espinosa Laura, Fernández-Maseda Ángeles, Antón-Gamero Montserrat, Avila Africa, Madrid Álvaro, González-Acosta Hilaria, Córdoba-Lanus Elizabeth, Santos Fernando, Gil-Calvo Marta, Espino Mar, García-Martinez Elena, Sanchez Ana, Muley Rafael

Abstract excerpt

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an autosomal recessive tubular disorder characterized by excessive renal magnesium and calcium excretion and chronic kidney failure. This rare disease is caused by mutations in the CLDN16 and CLDN19 genes. These genes encode the tight junction proteins claudin-16 and claudin-19, respectively, which regulate the paracellular ion reabsorption in...

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Identifiers

PMID: 23301036
DOI: 10.1371/journal.pone.0053151
PMCID: PMC3536807

Genes

CLDN19
CLDN16

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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