ArticleJournal of endocrinological investigation2009
Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition.
Article in Journal of endocrinological investigation, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 35 citations in OpenAlex.
- Pediatric Neuroendocrine Neoplasia of the Parathyroid Glands: Delving into Primary Hyperparathyroidism.Biomedicines · 2023Review
- Genetic testing for familial hyperparathyroidism: clinical-genetic profile in a Mediterranean cohort.Frontiers in endocrinology · 2023Article
- Expressions of Cushing's syndrome in multiple endocrine neoplasia type 1.Frontiers in endocrinology · 2023Review
- Familial Hyperparathyroidism.Frontiers in endocrinology · 2021Review
- Clinical and Molecular Genetics of Primary Hyperparathyroidism.Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme · 2020Review
- A clinical perspective of parathyroid hormone related hypercalcaemia.Reviews in endocrine & metabolic disorders · 2020Review
- Genetics of Hyperparathyroidism, Including Parathyroid Cancer.Endocrinology and metabolism clinics of North America · 2017Review
- Early Onset Primary Hyperparathyroidism Associated with a Novel Germline Mutation in CDKN1B.Case reports in endocrinology · 2015Article
- Clinical and molecular genetics of parathyroid neoplasms.Best practice & research. Clinical endocrinology & metabolism · 2010Review
- Proteomics Analysis of Tissue Samples Reveals Changes in Mitochondrial Protein Levels in Parathyroid Hyperplasia over Adenoma.Cancer genomics & proteomicsArticle
- Hyperparathyroid genes: sequences reveal answers and questions.Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical EndocrinologistsReview
- Targeted Next-Generation Sequencing ofIndian journal of endocrinology and metabolismArticle
Corrections and comments
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Authors and funding
14 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivePrimary hyperparathyroidism (PHPT), a common endocrine condition, is usually caused by sporadically occurring parathyroid adenoma. A subset of patients carry germline mutations in genes such as MEN1 (multiple endocrine neoplasia type 1), HRPT2 (hyperparathyroidism 2), and CASR (calcium-sensing receptor) predisposing to syndromic forms of PHPT or familial isolated hyperparathyroidism (FIHP). Recently, germline mutations in two novel genes AIP (aryl hydrocarbon receptor-interacting protein) and CDKN1B (cyclin-dependent kinase inhibitor 1B) have been found to be associated with endocrine tumors. The purpose of this study was to evaluate the role of MEN1, HRPT2, CASR, AIP, and CDKN1B genes in PHPT patients with clinical features suggestive of genetic predisposition. PATIENTS AND
designMedical records of patients treated for PHPT from 1974 to 2001 at Oulu University Hospital were reviewed. Patients with multiglandular or recurrent/persistent disease, other MEN1- related manifestations, aged 40 yr or younger at onset or with a family history of PHPT/MEN1-related tumor were invited to the study. Twenty patients with previously diagnosed MEN1 were excluded. Participants were interviewed and blood samples obtained for biochemical screening and mutation analysis of MEN1, HRPT2, CASR, AIP, and CDKN1B.
resultsOf the 56 invited patients, 29 took part in the study. One patient was found to carry the c. 1356_1367del12 MEN1 founder mutation. Mutations in other genes were not detected.
conclusionsApart from MEN1, mutations in other genes predisposing to PHPT seem to be rare or non-existing in Northern Finnish PHPT patients. No evidence was found for a role of AIP or CDKN1B in PHPT predisposition.
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