Treatment Difficulties in Hypomagnesemia Secondary to the Transient Receptor Potential Melastatin 6 Gene: A Case Report with Novel Mutation

Yücel, Hüsniye; Sel, Çiğdem Genç; Kasapkara, Çiğdem Seher; Küçükali, Gülin Karacan; Erdeve, Şenay Savaş; Öztoprak, Ülkühan; Ceylaner, Serdar; Şenel, Saliha; Akçaboy, Meltem

doi:10.4274/jcrpe.galenos.2020.2020.0004

Cited by 5 publications

(4 citation statements)

References 12 publications

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“…However, in our case, a history of febrile convulsions in the patient and his maternal family members could disrupt the initial diagnosis, which may be explained by the fact that fever intensifies the convulsions caused by hypomagnesemia. The previous literature also showed 3 patient had a history of febrile convulsions, 2 didn't complete the serum examination, 1 occurred after diagnosed (12,30,34).…”

Section: Discussionmentioning

confidence: 99%

Case Report: Novel TRPM6 Mutations Cause Hereditary Hypomagnesemia With Secondary Hypocalcemia in a Chinese Family and a Literature Review

et al. 2022

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BackgroundHereditary hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disease due to biallelic TRPM6 mutations. Although the reports of HSH caused by TRPM6 mutations are not very rare, the age of onset in previously reported HSH cases were <1 year.MethodsWe collected and analyzed the clinical data of twin brothers with onset age over 1 year old and performed whole exome sequencing in the patients and their parents. Confirmed by Sanger sequencing, missense mutation was analyzed in silico. We also searched Pubmed, and extracted clinical data from case reports and case series with full text in English, reporting original data of patients with TRPM6 mutations.ResultsThe twin patients had canonical HSH phenotype with compound novel TRPM6 mutations, p.T87K and c.705dupT, inherited from their father and mother, respectively. T87 is a highly conserved site and T87K is predicted to cause hydrogen bond disruption. We identified 26 articles published between May 28, 2002 to December 31, 2021 which reported a total of 88 patients with TRPM6 mutation. We found that the most common clinical phenotypes were hypomagnesemia, hypocalcemia, and convulsions. However, the age of onset in HSH patients almost always occurred under 12 months old, the twin patients of our study were 18 and 26 months old at onset.ConclusionWe identified two novel TRPM6 mutations in a Chinses family with HSH, and showed that the age of onset with c.704c-c.705(exon7)insT and c.260(exon4)C>A mutation in TRPM6 was much later than other mutations and would be much less serious.

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Section: Discussionmentioning

confidence: 99%

Case Report: Novel TRPM6 Mutations Cause Hereditary Hypomagnesemia With Secondary Hypocalcemia in a Chinese Family and a Literature Review

et al. 2022

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“…HypoMg has been long associated with increased seizure activities and epilepsy 1 – 4 , 37 . We have found that a low-Mg diet induces seizures and death, with female mice being more susceptible than males 11 .…”

Section: Discussionmentioning

confidence: 99%

“…Mutations in both TRPM6 and TRPM7 have been associated with HypoMg and seizures 2 , 4 , 5 . Moreover, Mg supplementation can prevent these seizures.…”

Section: Discussionmentioning

confidence: 99%

“…Hypomagnesemia (HypoMg, serum Mg < 0.7 mmol/L) is associated with afebrile seizures and epilepsy, especially in patients with mutations of magnesium (Mg) transporters such as transient receptor potential cation channel subfamily M 7 (TRPM7), TRPM6, and cyclin and CBS domain divalent metal cation transport mediator 2 (CNNM2) 1 – 5 . The mechanism for these seizures is unknown, but a role for low Mg is clear: long-term Mg supplementation shows significant protection for these patients against seizures, cognitive development, and motor development 1 – 4 . While low Mg is used to acutely model seizures ex vivo 6 – 10 , mechanisms behind low Mg-induced seizures in vivo are likely multifaceted.…”

Section: Introductionmentioning

confidence: 99%

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TRPM7 kinase mediates hypomagnesemia-induced seizure-related death

Liu

Feng

et al. 2023

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Hypomagnesemia (HypoMg) can cause seizures and death, but the mechanism is unknown. Transient receptor potential cation channel subfamily M 7 (TRPM7) is a Mg transporter with both channel and kinase function. In this study, we focused on the kinase role of TRPM7 in HypoMg-induced seizures and death. Wild type C57BL/6J mice and transgenic mice with a global homozygous mutation in the TRPM7 kinase domain (TRPM7K1646R, with no kinase function) were fed with control diet or a HypoMg diet. After 6 weeks of HypoMg diet, mice had significantly decreased serum Mg, elevated brain TRPM7, and a significant rate of death, with females being most susceptible. Deaths were immediately preceded by seizure events. TRPM7K1646R mice showed resistance to seizure-induced death. HypoMg-induced brain inflammation and oxidative stress were suppressed by TRPM7K1646R. Compared to their male counterparts, HypoMg female mice had higher levels of inflammation and oxidative stress in the hippocampus. We concluded that TRPM7 kinase function contributes seizure-induced deaths in HypoMg mice and that inhibiting the kinase reduced inflammation and oxidative stress.

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Intestinal hypomagnesemia in an Iranian patient with a novel TRPM6 variant: a case report and review of the literature

et al. 2023

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Treatment Difficulties in Hypomagnesemia Secondary to the Transient Receptor Potential Melastatin 6 Gene: A Case Report with Novel Mutation

Cited by 5 publications

References 12 publications

Case Report: Novel TRPM6 Mutations Cause Hereditary Hypomagnesemia With Secondary Hypocalcemia in a Chinese Family and a Literature Review

Case Report: Novel TRPM6 Mutations Cause Hereditary Hypomagnesemia With Secondary Hypocalcemia in a Chinese Family and a Literature Review

TRPM7 kinase mediates hypomagnesemia-induced seizure-related death

Intestinal hypomagnesemia in an Iranian patient with a novel TRPM6 variant: a case report and review of the literature

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