ArticleJournal of endocrinological investigation2020
Whole exome sequencing in familial isolated primary hyperparathyroidism.
Article in Journal of endocrinological investigation, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome.The Journal of clinical endocrinology and metabolism · 2023Pooled it
- Spatial transcriptomic analysis of mouse parathyroid gland cells expressing an activating variant ofJBMR plus · 2025Article
- Genetic or familiar forms of primary hyperparathyroidism: description of a case series with familial isolated hyperparathyroidism and review of the literature.Archives of endocrinology and metabolism · 2025Article
- Germline mutations of GCM2 cause a novel variant of hereditary primary hyperparathyroidism.Updates in surgery · 2025Article
- Transcriptome sequencing reveals distinct atypical parathyroid tumor subtypes.Endocrine-related cancer · 2025Article
- Heritable hyperparathyroidism: Genetic insights and clinical implications.Best practice & research. Clinical endocrinology & metabolism · 2025Review
- Familial states of primary hyperparathyroidism: an update.Journal of endocrinological investigation · 2024Review
- Pediatric Neuroendocrine Neoplasia of the Parathyroid Glands: Delving into Primary Hyperparathyroidism.Biomedicines · 2023Review
- A Knock-In Mouse Model of theJournal of the Endocrine Society · 2023Article
- Molecular and Clinical Spectrum of Primary Hyperparathyroidism.Endocrine reviews · 2023Article
- Article
- Missense mutations in inositol 1,4,5-trisphosphate receptor type 3 result in leaky CaiScience · 2022Article
- Germline Mutations Related to Primary Hyperparathyroidism Identified by Next-Generation Sequencing.Frontiers in endocrinology · 2022Review
- Whole-Exome Sequencing Implicates theFrontiers in cell and developmental biology · 2021Article
- Familial Hyperparathyroidism.Frontiers in endocrinology · 2021Review
- Disease-associated mutations in inositol 1,4,5-trisphosphate receptor subunits impair channel function.The Journal of biological chemistry · 2020Article
- Clinical and Molecular Genetics of Primary Hyperparathyroidism.Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme · 2020Review
Corrections and comments
- Erratum issued
Authors and funding
15 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeFamilial isolated hyperparathyroidism (FIHP) is a rare inherited disease accounting for 1% of all cases of primary hyperparathyroidism (PHPT). It is genetically heterogeneous being associated with mutations in different genes, including MEN1, CDC73, CASR, and recently GCM2. The aim of the study was to further investigate the molecular pathogenesis in Italian FIHP kindreds.
methodsWe used whole exome sequencing (WES) in the probands of seven unrelated FIHP kindreds. We carried out a separate family-based exome analysis in a large family characterized by the co-occurrence of PHPT with multiple tumors apparently unrelated to the disease. Selected variants were also screened in 18 additional FIHP kindreds. The clinical, biochemical, and pathological characteristics of the families were also investigated.
resultsThree different variants in GCM2 gene were found in two families, but only one (p.Tyr394Ser), already been shown to be pathogenic in vitro, segregated with the disease. Six probands carried seven heterozygous missense mutations segregating with the disease in the FAT3, PARK2, HDAC4, ITPR2 and TBCE genes. A genetic variant in the APC gene co-segregating with PHPT (p.Val530Ala) was detected in a family whose affected relatives had additional tumors, including colonic polyposis.
conclusionWe confirm the role of GCM2 germline mutations in the pathogenesis of FIHP, although at a lower rate than in the previous WES study. Further studies are needed to establish the prevalence and the role in the predisposition to FIHP of the novel variants in additional genes.
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