ArticleThe Journal of clinical endocrinology and metabolism2008
Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism.
Article in The Journal of clinical endocrinology and metabolism, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 101 citations in OpenAlex.
- A case of familial isolated hypoparathyroidism type 2 with novel compound heterozygous variants inClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2026Article
- Imprinting and skeletal disorders: lessons from pseudohypoparathyroidism and related disorders.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2025Review
- Spatial transcriptomic analysis of mouse parathyroid gland cells expressing an activating variant ofJBMR plus · 2025Article
- A novel heterozygous frameshift pathogenic variant inFrontiers in endocrinology · 2025Article
- Epigenetic profiling reveals key genes and cis-regulatory networks specific to human parathyroids.Nature communications · 2024Article
- A Functional Variant Alters the Binding ofAnimals : an open access journal from MDPI · 2023Article
- A Knock-In Mouse Model of theJournal of the Endocrine Society · 2023Article
- Homozygous Ser-1 to Pro-1 mutation in parathyroid hormone identified in hypocalcemic patients results in secretion of a biologically inactive pro-hormone.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Glial Cell Missing Homolog 2 Mutation Causing Severe Hypoparathyroidism: Report of Two Cases With Novel Mutations.Journal of the Endocrine Society · 2022Article
- Genetics of monogenic disorders of calcium and bone metabolism.Clinical endocrinology · 2022Review
- Novel PTH Gene Mutations Causing Isolated Hypoparathyroidism.The Journal of clinical endocrinology and metabolism · 2022Article
- Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders.European journal of endocrinology · 2022Article
- A child with tetany, convulsions, and nephrocalcinosis: Answers.Pediatric nephrology (Berlin, Germany) · 2021Article
- GCM2 Silencing in Parathyroid Adenoma Is Associated With Promoter Hypermethylation and Gain of Methylation on Histone 3.The Journal of clinical endocrinology and metabolism · 2021Article
- Polymorphisms of KLF3 gene coding region and identification of their functionality for abdominal fat in chickens.Veterinary medicine and science · 2021Article
- Hormonal regulation of biomineralization.Nature reviews. Endocrinology · 2021Review
- Five patients with disorders of calcium metabolism presented with GCM2 gene variants.Scientific reports · 2021Observational
- Expression, function, and regulation of the embryonic transcription factor TBX1 in parathyroid tumors.Laboratory investigation; a journal of technical methods and pathology · 2017Article
- Identification of a potential functional single nucleotide polymorphism for fatness and growth traits in the 3'-untranslated region of theJournal of animal science · 2017Article
- Specifying the molecular pattern of sporadic parathyroid tumorigenesis-The Y282D variant of the GCM2 gene.Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie · 2017Article
Corrections and comments
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Authors and funding
9 authors at 6 institutions in 2 countries.
Funding
Abstract
contextHypoparathyroidism (HP) is characterized by low PTH levels, hypocalcemia, and hyperphosphatemia. Heterozygous mutations in pre-pro-PTH or the calcium-sensing receptor (CaSR) cause some forms of autosomal dominant HP (AD-HP). Furthermore, homozygous mutations in glial cells missing B (GCMB) have been implicated in autosomal recessive HP (AR-HP). In most other HP patients, however, the molecular defect remains undefined.
objectiveOur objectives were to determine the genetic defect in the affected members of two unrelated families with AD-HP and define the underlying disease mechanism. SUBJECTS: Several family members affected by AD-HP were investigated. The proband in family A had low calcium detected on routine blood testing, whereas the proband in family B had symptomatic hypocalcemia.
methodsMutational analysis of the genes encoding pre-pro-PTH, CaSR, and GCMB was performed using PCR-amplified genomic DNA of the probands and other available members of each family. The identified GCMB mutants were characterized by Western blot analysis and luciferase reporter assay using DF-1 fibroblasts.
resultsTwo novel heterozygous mutations located in the last GCMB exon (c.1389delT and c.1399delC in families A and B, respectively) were identified that both lead to frame-shifts and replacement of the putative second transactivation domain within carboxyl-terminal region by unrelated amino acid sequence. The mutant GCMB proteins were well expressed, and both showed dose-dependent inhibition of the transactivation capacity of wild-type protein in luciferase reporter assays.
conclusionsThe dominant-negative effect observed in vitro for both GCMB mutations provides a plausible explanation for the impaired PTH secretion observed in the two unrelated families with AD-HP.
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