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  1. Article: Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia.

    Walder, Roxanne Y / Landau, Daniel / Meyer, Peter / Shalev, Hanna / Tsolia, Maria / Borochowitz, Zvi / Boettger, Melanie Barbara / Beck, Gretel E / Englehardt, Richard K / Carmi, Rivka / Sheffield, Val C

    Nature genetics

    2002  Volume 31, Issue 2, Page(s) 171–174

    Abstract: ... that mutation of TRPM6 causes hypomagnesemia with secondary hypocalcemia and show that individuals carrying ... Familial hypomagnesemia with secondary hypocalcemia (OMIM 602014) is an autosomal recessive disease ... and hypocalcemia, which lead to seizures and tetany. The disorder has been thought to be caused ...

    Abstract Familial hypomagnesemia with secondary hypocalcemia (OMIM 602014) is an autosomal recessive disease that results in electrolyte abnormalities shortly after birth. Affected individuals show severe hypomagnesemia and hypocalcemia, which lead to seizures and tetany. The disorder has been thought to be caused by a defect in the intestinal absorption of magnesium, rather than by abnormal renal loss of magnesium. Restoring the concentrations of serum magnesium to normal values by high-dose magnesium supplementation can overcome the apparent defect in magnesium absorption and in serum concentrations of calcium. Life-long magnesium supplementation is required to overcome the defect in magnesium handling by these individuals. We previously mapped the gene locus to chromosome 9q in three large inbred kindreds from Israel. Here we report that mutation of TRPM6 causes hypomagnesemia with secondary hypocalcemia and show that individuals carrying mutations in this gene have abnormal renal magnesium excretion.
    MeSH term(s) DNA Mutational Analysis ; Humans ; Hypocalcemia/etiology ; Hypocalcemia/genetics ; Ion Channels/genetics ; Magnesium/blood ; Molecular Sequence Data ; Mutation ; Pedigree ; Sequence Analysis, DNA ; TRPM Cation Channels
    Chemical Substances Ion Channels ; TRPM Cation Channels ; TRPM6 protein, human ; Magnesium (I38ZP9992A)
    Language English
    Publishing date 2002-06
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S.
    ZDB-ID 1108734-1
    ISSN 1546-1718 ; 1061-4036
    ISSN (online) 1546-1718
    ISSN 1061-4036
    DOI 10.1038/ng901
    Database MEDical Literature Analysis and Retrieval System OnLINE

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

    Han, Yiran / Zhao, Yajuan / Wang, Hua / Huo, Liang

    Frontiers in pediatrics

    2022  Volume 10, Page(s) 912524

    Abstract: Background: Hereditary hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal ... We found that the most common clinical phenotypes were hypomagnesemia, hypocalcemia, and convulsions ... between May 28, 2002 to December 31, 2021 which reported a total of 88 patients with TRPM6 mutation ...

    Abstract Background: Hereditary 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.
    Methods: We 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
    Results: The 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.
    Conclusion: We 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.
    Language English
    Publishing date 2022-07-12
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2711999-3
    ISSN 2296-2360
    ISSN 2296-2360
    DOI 10.3389/fped.2022.912524
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family.

    Schlingmann, Karl P / Weber, Stefanie / Peters, Melanie / Niemann Nejsum, Lene / Vitzthum, Helga / Klingel, Karin / Kratz, Markus / Haddad, Elie / Ristoff, Ellinor / Dinour, Dganit / Syrrou, Maria / Nielsen, Søren / Sassen, Martin / Waldegger, Siegfried / Seyberth, Hannsjörg W / Konrad, Martin

    Nature genetics

    2002  Volume 31, Issue 2, Page(s) 166–170

    Abstract: ... encoding TRPM6, in autosomal-recessive hypomagnesemia with secondary hypocalcemia (HSH, OMIM 602014 ... Using a positional candidate gene approach, we identified mutations in TRPM6 (also known as CHAK2 ... previously mapped to chromosome 9q22 (ref. 3). The TRPM6 protein is a new member of the long ...

    Abstract Magnesium is an essential ion involved in many biochemical and physiological processes. Homeostasis of magnesium levels is tightly regulated and depends on the balance between intestinal absorption and renal excretion. However, little is known about specific proteins mediating transepithelial magnesium transport. Using a positional candidate gene approach, we identified mutations in TRPM6 (also known as CHAK2), encoding TRPM6, in autosomal-recessive hypomagnesemia with secondary hypocalcemia (HSH, OMIM 602014), previously mapped to chromosome 9q22 (ref. 3). The TRPM6 protein is a new member of the long transient receptor potential channel (TRPM) family and is highly similar to TRPM7 (also known as TRP-PLIK), a bifunctional protein that combines calcium- and magnesium-permeable cation channel properties with protein kinase activity. TRPM6 is expressed in intestinal epithelia and kidney tubules. These findings indicate that TRPM6 is crucial for magnesium homeostasis and implicate a TRPM family member in human disease.
    MeSH term(s) Adult ; Female ; Haplotypes ; Humans ; Hypocalcemia/etiology ; Hypocalcemia/genetics ; Infant ; Infant, Newborn ; Ion Channels/genetics ; Ion Channels/physiology ; Magnesium/blood ; Male ; Molecular Sequence Data ; Multigene Family/genetics ; Mutation ; Pedigree ; Sequence Analysis, DNA ; TRPM Cation Channels
    Chemical Substances Ion Channels ; TRPM Cation Channels ; TRPM6 protein, human ; Magnesium (I38ZP9992A)
    Language English
    Publishing date 2002-06
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1108734-1
    ISSN 1546-1718 ; 1061-4036
    ISSN (online) 1546-1718
    ISSN 1061-4036
    DOI 10.1038/ng889
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3613: Show issues Location:
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  4. Article ; Online: Treatment Difficulties in Hypomagnesemia Secondary to the Transient Receptor Potential Melastatin 6 Gene: A Case Report with Novel Mutation

    Yücel, Hüsniye / Genç Sel, Çiğdem / Kasapkara, Çiğdem Seher / Karacan Küçükali, Gülin / Savas Erdeve, Senay / Öztoprak, Ülkühan / Ceylaner, Serdar / Şenel, Saliha / Akçaboy, Meltem

    Journal of clinical research in pediatric endocrinology

    2020  Volume 13, Issue 1, Page(s) 114–118

    Abstract: ... hypomagnesemia with secondary hypocalcemia is a rare genetic cause of hypomagnesemia, due to variants in the ... intractable seizures and hypocalcemia in communities where consanguineous marriages are common. Familial ... Hypomagnesemia is a rare cause of seizures in childhood but should be kept in mind in recurrent and ...

    Abstract Hypomagnesemia is a rare cause of seizures in childhood but should be kept in mind in recurrent and intractable seizures and hypocalcemia in communities where consanguineous marriages are common. Familial hypomagnesemia with secondary hypocalcemia is a rare genetic cause of hypomagnesemia, due to variants in the
    MeSH term(s) Child, Preschool ; Humans ; Hypocalcemia/drug therapy ; Hypocalcemia/etiology ; Magnesium Deficiency/complications ; Magnesium Deficiency/drug therapy ; Magnesium Deficiency/genetics ; Magnesium Oxide/administration & dosage ; Magnesium Oxide/pharmacology ; Male ; TRPM Cation Channels/genetics
    Chemical Substances TRPM Cation Channels ; TRPM6 protein, human ; Magnesium Oxide (3A3U0GI71G)
    Language English
    Publishing date 2020-04-17
    Publishing country Turkey
    Document type Case Reports ; Journal Article
    ZDB-ID 2641608-6
    ISSN 1308-5735 ; 1308-5727
    ISSN (online) 1308-5735
    ISSN 1308-5727
    DOI 10.4274/jcrpe.galenos.2020.2020.0004
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: A Novel Homozygous Mutation in the Transient Receptor Potential Melastatin 6 Gene: A Case Report.

    Altıncık, Ayça / Schlingmann, Karl Peter / Tosun, Mahya Sultan

    Journal of clinical research in pediatric endocrinology

    2016  Volume 8, Issue 1, Page(s) 101–104

    Abstract: Hereditary hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disease ... present in early infancy with seizures caused by the severe hypocalcemia and hypomagnesemia. By presenting ... the need for molecular genetic analysis in inbred or familial cases with hypomagnesemia. ...

    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.
    MeSH term(s) Child, Preschool ; Female ; Frameshift Mutation/genetics ; Genetic Predisposition to Disease ; Heterozygote ; Homozygote ; Humans ; Hypocalcemia/genetics ; Hypocalcemia/pathology ; Magnesium Deficiency/congenital ; Magnesium Deficiency/genetics ; Magnesium Deficiency/pathology ; Prognosis ; TRPM Cation Channels/genetics
    Chemical Substances TRPM Cation Channels ; TRPM6 protein, human
    Language English
    Publishing date 2016-03-05
    Publishing country Turkey
    Document type Case Reports ; Journal Article
    ZDB-ID 2641608-6
    ISSN 1308-5735 ; 1308-5727
    ISSN (online) 1308-5735
    ISSN 1308-5727
    DOI 10.4274/jcrpe.2254
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

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  6. Article: Hypomagnesemia and functional hypoparathyroidism due to novel mutations in the Mg-channel TRPM6.

    Astor, Marianne C / Løvås, Kristian / Wolff, Anette S B / Nedrebø, Bjørn / Bratland, Eirik / Steen-Johnsen, Jon / Husebye, Eystein S

    Endocrine connections

    2015  Volume 4, Issue 4, Page(s) 215–222

    Abstract: Primary hypomagnesemia with secondary hypocalcemia (HSH) is an autosomal recessive disorder ... to severe hypocalcemia. Homozygous mutations in the magnesium transporter gene transient receptor potential ... magnesium accompanied by moderate hypocalcemia. Two of the patients had an older sibling who died in infancy ...

    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.
    Language English
    Publishing date 2015-08-13
    Publishing country England
    Document type Journal Article
    ZDB-ID 2668428-7
    ISSN 2049-3614
    ISSN 2049-3614
    DOI 10.1530/EC-15-0066
    Database MEDical Literature Analysis and Retrieval System OnLINE

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