ArticleThe Journal of clinical investigation2001
Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB.
Article in The Journal of clinical investigation, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers.
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Who cites it
65 citing papers in PubMed, 178 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
- A novel mutation in exon 18 ofThe Journal of international medical research · 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
- Novel Variants and Clinical Heterogeneity in Pediatric Calcium Metabolism Disorders Identified Through High-Yield Tiered Genetic Testing in a Taiwanese Cohort.Medicina (Kaunas, Lithuania) · 2025Article
- Spatial transcriptomic analysis of mouse parathyroid gland cells expressing an activating variant ofJBMR plus · 2025Article
- Heritable hyperparathyroidism: Genetic insights and clinical implications.Best practice & research. Clinical endocrinology & metabolism · 2025Review
- A novel heterozygous frameshift pathogenic variant inFrontiers in endocrinology · 2025Article
- KMT2A and chronic inflammation as potential drivers of sporadic parathyroid adenoma.Clinical and translational medicine · 2024Article
- Case report: Familial hypoparathyroidism with elevated parathyroid hormone due to an inactivatingFrontiers in endocrinology · 2024Article
- A Knock-In Mouse Model of theJournal of the Endocrine Society · 2023Article
- Molecular and Clinical Spectrum of Primary Hyperparathyroidism.Endocrine reviews · 2023Article
- Hypoparathyroidism in children and adolescents.Annals of pediatric endocrinology & metabolism · 2023Article
- Variant Tyr 394Ser in 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
- Identification of 4 New Loci Associated With Primary Hyperparathyroidism (PHPT) and a Polygenic Risk Score for PHPT.The Journal of clinical endocrinology and metabolism · 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
5 more citing papers are in PubMed but not listed here.
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Hypoparathyroidism is characterized by hypocalcemia, hyperphosphatemia, and absent or markedly reduced circulating concentrations of parathyroid hormone. The transcription factor GCMB is predominantly, if not exclusively, expressed in parathyroid cells and is critical for development of the parathyroid glands in mice. Thus, in the present study we examined the GCMB gene, mapped to 6p23-24, as a candidate for isolated hypoparathyroidism. We defined the boundaries of the five exons of the human GCMB gene and then identified a large intragenic mutation in the GCMB genes of the proband of an extensive kindred with isolated hypoparathyroidism. Her parents and several other unaffected relatives were heterozygous for the mutation. Despite an absence of any history of consanguinity, microsatellite analysis showed shared genotypes that flanked the GCMB gene over a span of 5 cM, suggesting that both of the proband's GCMB alleles had been derived from a single common ancestor. Analysis of additional, unrelated cases did not disclose the same mutation. We conclude that homozygous loss of function of the GCMB gene impairs normal parathyroid gland embryology and is responsible for isolated hypoparathyroidism in a subset of patients with this disease.
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