RT Journal Article
T1 Novel variant in the CNNM2 gene associated with dominant hypomagnesemia.
A1 García-Castaño, Alejandro
A1 Madariaga, Leire
A1 Antón-Gamero, Montserrat
A1 Mejia, Natalia
A1 Ponce, Jenny
A1 Gómez-Conde, Sara
A1 Pérez de Nanclares, Gustavo
A1 De la Hoz, Ana Belén
A1 Martínez, Rosa
A1 Saso, Laura
A1 Martínez de LaPiscina, Idoia
A1 Urrutia, Inés
A1 Velasco, Olaia
A1 Aguayo, Aníbal
A1 Castaño, Luis
A1 Gaztambide, Sonia
AB 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.
YR 2020
FD 2020-09-30
LK http://hdl.handle.net/10668/16352
UL http://hdl.handle.net/10668/16352
LA en
DS RISalud
RD Apr 18, 2025