ArticleJournal of clinical research in pediatric endocrinology2016
A Novel Homozygous Mutation in the Transient Receptor Potential Melastatin 6 Gene: A Case Report.
Article in Journal of clinical research in pediatric endocrinology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 17 citations in OpenAlex.
- Intestinal hypomagnesemia in an Iranian patient with a novel TRPM6 variant: a case report and review of the literature.CEN case reports · 2023Review
- 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
- 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
- Mild hypotonia and recurrent seizures in an 8-month-old boy: Answers.Pediatric nephrology (Berlin, Germany) · 2019Article
- Magnesium-permeableSpringerPlus · 2016Article
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Authors and funding
3 authors at 2 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disease caused by mutations in the transient receptor potential melastatin 6 (TRPM6) gene. Affected individuals present in early infancy with seizures caused by the severe hypocalcemia and hypomagnesemia. By presenting this case report, we also aimed to highlight the need for molecular genetic analysis in inbred or familial cases with hypomagnesemia. A Turkish inbred girl, now aged six years, had presented to another hospital at age two months with seizures diagnosed to be due to hypomagnesemia. She was on magnesium replacement therapy when she was admitted to our clinic with complaints of chronic diarrhea at age 3.6 years. During her follow-up in our clinic, she showed an age-appropriate physical and neurological development. In molecular genetic analysis, a novel homozygous frame-shift mutation (c.3447delT>p.F1149fs) was identified in the TRPM6 gene. This mutation leads to a truncation of the TRPM6 protein, thereby complete loss of function. We present the clinical follow-up findings of a pediatric HSH case due to a novel mutation in the TRPM6 gene and highlight the need for molecular genetic analysis in inbred or familial cases with hypomagnesemia.
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Registered trials
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