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Article

Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

Molecular genetics & genomic medicine - 1 Nov 2020

García-Castaño Alejandro, Perdomo-Ramirez Ana, Vall-Palomar Mònica, Ramos-Trujillo Elena, Madariaga Leire, Ariceta Gema, Claverie-Martin Felix

Abstract excerpt

BACKGROUND: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive tubulopathy characterized by excessive urinary wasting of magnesium and calcium, bilateral nephrocalcinosis, and progressive chronic renal failure in childhood or adolescence. FHHNC is caused by mutations in CLDN16 and CLDN19, which encode the tight-junction proteins claudin-16 and claudin-19,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 32869508
DOI: 10.1002/mgg3.1475
PMCID: PMC7667358

Genes

CLDN16
CLDN19

Variants

Provenance

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