Abstract | OBJECTIVE: PATIENTS AND DESIGN: Medical 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. RESULTS: Of 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. CONCLUSIONS: Apart 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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Authors | O Vierimaa, A Villablanca, A Alimov, M Georgitsi, A Raitila, P Vahteristo, C Larsson, A Ruokonen, E Eloranta, T M L Ebeling, J Ignatius, L A Aaltonen, J Leisti, P I Salmela |
Journal | Journal of endocrinological investigation
(J Endocrinol Invest)
Vol. 32
Issue 6
Pg. 512-8
(Jun 2009)
ISSN: 1720-8386 [Electronic] Italy |
PMID | 19474519
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- CASR protein, human
- CDC73 protein, human
- CDKN1B protein, human
- Intracellular Signaling Peptides and Proteins
- MEN1 protein, human
- Proto-Oncogene Proteins
- Receptors, Calcium-Sensing
- Tumor Suppressor Proteins
- aryl hydrocarbon receptor-interacting protein
- Cyclin-Dependent Kinase Inhibitor p27
- DNA
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Topics |
- Adult
- Cyclin-Dependent Kinase Inhibitor p27
- DNA
(chemistry, genetics)
- Female
- Finland
- Genetic Predisposition to Disease
- Genetic Variation
- Humans
- Hyperparathyroidism, Primary
(genetics, pathology)
- Intracellular Signaling Peptides and Proteins
(chemistry, genetics)
- Male
- Middle Aged
- Parathyroid Neoplasms
(genetics, pathology)
- Polymerase Chain Reaction
- Proto-Oncogene Proteins
(chemistry, genetics)
- Receptors, Calcium-Sensing
(chemistry, genetics)
- Retrospective Studies
- Sequence Analysis, DNA
- Tumor Suppressor Proteins
(chemistry, genetics)
- Young Adult
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