Possible role for rare TRPM7 variants in patients with hypomagnesaemia with secondary hypocalcaemia.

ABSTRACT:

Background

Hypomagnesaemia with secondary hypocal-caemia (HSH) is a rare autosomal recessive disorder caused by pathogenic variants in TRPM6, encoding the channel-kinase transient receptor potential melastatin type 6. Patients have very low serum magnesium (Mg2+) levels and suffer from muscle cramps and seizures. Despite genetic testing, a subgroup of HSH patients remains without a diagnosis.

Methods

In this study, two families with an HSH phenotype but negative for TRPM6 pathogenic variants were subjected to whole exome sequencing. Using a complementary combination of biochemical and functional analyses in overexpression systems and patient-derived fibroblasts, the effect of the TRPM7-identified variants on Mg2+ transport was examined.

Results

For the first time, var

SUBMITTER: Vargas-Poussou R 

PROVIDER: S-EPMC9976740 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature