%0 Journal Article
%A García-Castaño, Alejandro
%A Madariaga, Leire
%A Antón-Gamero, Montserrat
%A Mejia, Natalia
%A Ponce, Jenny
%A Gómez-Conde, Sara
%A Pérez de Nanclares, Gustavo
%A De la Hoz, Ana Belén
%A Martínez, Rosa
%A Saso, Laura
%A Martínez de LaPiscina, Idoia
%A Urrutia, Inés
%A Velasco, Olaia
%A Aguayo, Aníbal
%A Castaño, Luis
%A Gaztambide, Sonia
%T Novel variant in the CNNM2 gene associated with dominant hypomagnesemia.
%D 2020
%U http://hdl.handle.net/10668/16352
%X The maintenance of magnesium (Mg2+) homeostasis is essential for human life. The Cystathionine-β-synthase (CBS)-pair domain divalent metal cation transport mediators (CNNMs) have been described to be involved in maintaining Mg2+ homeostasis. Among these CNNMs, CNNM2 is expressed in the basolateral membrane of the kidney tubules where it is involved in Mg2+ reabsorption. A total of four patients, two of them with a suspected disorder of calcium metabolism, and two patients with a clinical diagnosis of primary tubulopathy were screened for mutations by Next-Generation Sequencing (NGS). We found one novel likely pathogenic variant in the heterozygous state (c.2384C>A; p.(Ser795*)) in the CNNM2 gene in a family with a suspected disorder of calcium metabolism. In this family, hypomagnesemia was indirectly discovered. Moreover, we observed three novel variants of uncertain significance in heterozygous state in the other three patients (c.557G>C; p.(Ser186Thr), c.778A>T; p.(Ile260Phe), and c.1003G>A; p.(Asp335Asn)). Our study shows the utility of Next-Generation Sequencing in unravelling the genetic origin of rare diseases. In clinical practice, serum Mg2+ should be determined in calcium and PTH-related disorders.
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