ArticleEuropean journal of human genetics : EJHG2014
New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia.
Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 89 citations in OpenAlex.
- Proton pump inhibitors and hospitalization with hypomagnesemia: a population-based case-control study.PLoS medicine · 2014Trial
- Familial hypomagnesemia with secondary hypocalcemia: a novel TRPM6 mutation associated with treatment-resistant migraine in a North African family.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- [A case report of primary hypomagnesemia with secondary hypocalcemia caused byZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Article
- Role of Zinc and Magnesium in Glycemic Status Among the Saudi Population.International journal of general medicine · 2025Article
- Rare cause of recurrent hypocalcaemia and functional hypoparathyroidism due to hypomagnesaemia caused byBMJ case reports · 2024Article
- The odyssey of the TR(i)P journey to the cellular membrane.Frontiers in cell and developmental biology · 2024Review
- Intestinal hypomagnesemia in an Iranian patient with a novel TRPM6 variant: a case report and review of the literature.CEN case reports · 2023Review
- Interaction of Calmodulin with TRPM: An Initiator of Channel Modulation.International journal of molecular sciences · 2023Review
- Possible role for rare TRPM7 variants in patients with hypomagnesaemia with secondary hypocalcaemia.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2023Article
- Article
- Case Report: A Novel Non-Canonical Splice Site Variant (c.1638+7T>C) inFrontiers in pediatrics · 2022Article
- Case Report: Novel TRPM6 Mutations Cause Hereditary Hypomagnesemia With Secondary Hypocalcemia in a Chinese Family and a Literature Review.Frontiers in pediatrics · 2022Article
- Case Report: Recurrent Hemiplegic Migraine Attacks Accompanied by Intractable Hypomagnesemia Due to aFrontiers in pediatrics · 2022Article
- Article
- Long-term Clinical Follow-up of Patients with Familial Hypomagnesemia with Secondary HypocalcemiaJournal of clinical research in pediatric endocrinology · 2021Article
- Treatment Difficulties in Hypomagnesemia Secondary to the Transient Receptor Potential Melastatin 6 Gene: A Case Report with Novel MutationJournal of clinical research in pediatric endocrinology · 2021Article
- Mineral Element Deposition and Gene Expression across Different Tissues of Cherry Valley Ducks.Animals : an open access journal from MDPI · 2021Article
- Advances in the Development of Biomarkers for Poststroke Epilepsy.BioMed research international · 2021Review
- A nonsense variant in Rap Guanine Nucleotide Exchange Factor 5 (RAPGEF5) is associated with equine familial isolated hypoparathyroidism in Thoroughbred foals.PLoS genetics · 2020Article
- A novel TRPM6 variant (c.3179T>A) causing familial hypomagnesemia with secondary hypocalcemia.Endocrinology, diabetes & metabolism case reports · 2020Article
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Authors and funding
8 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Despite recent progress in our understanding of renal magnesium (Mg(2+)) handling, the molecular mechanisms accounting for transepithelial Mg(2+) transport are still poorly understood. Mutations in the TRPM6 gene, encoding the epithelial Mg(2+) channel TRPM6 (transient receptor potential melastatin 6), have been proven to be the molecular cause of hypomagnesemia with secondary hypocalcemia (HSH; OMIM 602014). HSH manifests in the newborn period being characterized by very low serum Mg(2+) levels (<0.4 mmol/l) accompanied by low serum calcium (Ca(2+)) concentrations. A proportion of previously described TRPM6 mutations lead to a truncated TRPM6 protein resulting in a complete loss-of-function of the ion channel. In addition, five-point mutations have been previously described. The aim of this study was to complement the current clinical picture by adding the molecular data from five new missense mutations found in five patients with HSH. To this end, patch-clamp analysis and cell surface measurements were performed to assess the effect of the various mutations on TRPM6 channel function. All mutant channels, expressed in HEK293 cells, showed loss-of-function, whereas no severe trafficking impairment to the plasma membrane surface was observed. We conclude that the new TRPM6 missense mutations lead to dysregulated intestinal/renal Mg(2+) (re)absorption as a consequence of loss of TRPM6 channel function.
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