Hypomagnesemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants

This collection contains the data for the study "hypomagnesemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants", which was published as part of a thesis and in Scientific Reports (PMID: 38519529).

Variants in the CNNM2 gene are causative for hypomagnesemia, seizures and intellectual disability, although the phenotypes can be variable. This study aims to understand the genotype-phenotype relationship in affected individuals with CNNM2 variants by phenotypic, functional and elaborate structural analysis of novel variants. This results in the identification of seven variants that significantly affect CNNM2-mediated magnesium transport. Pathogenicity of these variants is further supported by structural modelling, which predicts CNNM2 structure to be affected by all of them. Strikingly, seizures and intellectual disability are absent in 4 out of 7 cases, indicating these phenotypes are caused either by specific CNNM2 variant only or by additional risk factors.