ArticleEndocrine connections2015
Hypomagnesemia and functional hypoparathyroidism due to novel mutations in the Mg-channel TRPM6.
Article in Endocrine connections, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 35 citations in OpenAlex.
- Spectrum and functions of ion channels and transporters in osteoclasts.Bone research · 2026Review
- [A case report of primary hypomagnesemia with secondary hypocalcemia caused byZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Article
- A Rare Case of Neonatal Hypomagnesemia with Secondary Hypocalcemia Caused by a Novel Homozygous TRPM6 Gene Variant.The American journal of case reports · 2024Article
- Hypomagnesemia with Secondary Hypoparathyroidism and Hypocalcemia due to Novel Variants in the Transient Receptor Potential Cation Channel Subfamily M Member 6 (Journal of pediatric genetics · 2024Article
- The Biological Effects of Magnesium-Based Implants on the Skeleton and Their Clinical Implications in Orthopedic Trauma Surgery.Biomaterials research · 2024Review
- Intestinal hypomagnesemia in an Iranian patient with a novel TRPM6 variant: a case report and review of the literature.CEN case reports · 2023Review
- Metabolic Syndrome in Aging Men as a Factor Affecting the Relationship between Mg, Ca, and P in Serum and Bone.International journal of molecular sciences · 2023Article
- 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
- Long-term Clinical Follow-up of Patients with Familial Hypomagnesemia with Secondary HypocalcemiaJournal of clinical research in pediatric endocrinology · 2021Article
- The Effects of Calcium, Magnesium, Phosphorus, Fluoride, and Lead on Bone Tissue.Biomolecules · 2021Review
- Mitochondrial DNA mutations in renal disease: an overview.Pediatric nephrology (Berlin, Germany) · 2021Review
- Mild hypotonia and recurrent seizures in an 8-month-old boy: Answers.Pediatric nephrology (Berlin, Germany) · 2019Article
- Novel Aspects of Renal Magnesium Homeostasis.Frontiers in pediatrics · 2018Review
- Diagnostic strategy for inherited hypomagnesemia.Clinical and experimental nephrology · 2017Article
- Histone phosphorylation by TRPM6's cleaved kinase attenuates adjacent arginine methylation to regulate gene expression.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
- A Novel Homozygous Mutation in the Transient Receptor Potential Melastatin 6 Gene: A Case Report.Journal of clinical research in pediatric endocrinology · 2016Article
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary hypomagnesemia with secondary hypocalcemia (HSH) is an autosomal recessive disorder characterized by neuromuscular symptoms in infancy due to extremely low levels of serum magnesium and moderate to severe hypocalcemia. Homozygous mutations in the magnesium transporter gene transient receptor potential cation channel member 6 (TRPM6) cause the disease. HSH can be misdiagnosed as primary hypoparathyroidism. The aim of this study was to describe the genetic, clinical and biochemical features of patients clinically diagnosed with HSH in a Norwegian cohort. Five patients in four families with clinical features of HSH were identified, including one during a national survey of hypoparathyroidism. The clinical history of the patients and their families were reviewed and gene analyses of TRPM6 performed. Four of five patients presented with generalized seizures in infancy and extremely low levels of serum magnesium accompanied by moderate hypocalcemia. Two of the patients had an older sibling who died in infancy. Four novel mutations and one large deletion in TRPM6 were identified. In one patient two linked homozygous mutations were located in exon 22 (p.F978L) and exon 23 (p.G1042V). Two families had an identical mutation in exon 25 (p.E1155X). The fourth patient had a missense mutation in exon 4 (p.H61N) combined with a large deletion in the C-terminal end of the gene. HSH is a potentially lethal condition that can be misdiagnosed as primary hypoparathyroidism. The diagnosis is easily made if serum magnesium is measured. When treated appropriately with high doses of oral magnesium supplementation, severe hypomagnesemia is uncommon and the long-term prognosis seems to be good.
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