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dc.contributor.authorAstor, Marianneen_US
dc.contributor.authorLøvås, Kristianen_US
dc.contributor.authorWolff, Anette Susanne Bøeen_US
dc.contributor.authorNedrebø, Bjørn Gunnaren_US
dc.contributor.authorBratland, Eiriken_US
dc.contributor.authorSteen-Johnsen, Jonen_US
dc.contributor.authorHusebye, Eystein Sverreen_US
dc.date.accessioned2016-01-11T09:24:12Z
dc.date.available2016-01-11T09:24:12Z
dc.date.issued2015
dc.PublishedEndocrine Connections 2015, 4:215-222eng
dc.identifier.issn2049-3614
dc.identifier.urihttps://hdl.handle.net/1956/10908
dc.description.abstractPrimary 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.en_US
dc.language.isoengeng
dc.publisherBioscientificaeng
dc.rightsAttribution CC BY-NCeng
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/eng
dc.subjecthypomagnesemiaeng
dc.subjectfamilial hypomagnesemiaeng
dc.subjecthypoparathyroidismeng
dc.subjecttransient receptor potential cation channel member 6eng
dc.subjectTRPM6eng
dc.titleHypomagnesemia and functional hypoparathyroidism due to novel mutations in the Mg-channel TRPM6en_US
dc.typePeer reviewed
dc.typeJournal article
dc.date.updated2015-12-22T10:36:23Z
dc.description.versionpublishedVersionen_US
dc.rights.holderCopyright 2015 The Authors
dc.identifier.doihttps://doi.org/10.1530/ec-15-0066
dc.identifier.cristin1281582


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