PMID- 19474519
OWN - NLM
STAT- MEDLINE
DCOM- 20100217
LR  - 20211020
IS  - 1720-8386 (Electronic)
IS  - 0391-4097 (Linking)
VI  - 32
IP  - 6
DP  - 2009 Jun
TI  - Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary 
      hyperparathyroidism patients with features of genetic predisposition.
PG  - 512-8
AB  - OBJECTIVE: Primary 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 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.
FAU - Vierimaa, O
AU  - Vierimaa O
AD  - Department of Clinical Genetics, Oulu University Hospital, PB 24, FIN-90029 Oys, 
      Oulu, Finland. outi.vierimaa@oulu.fi
FAU - Villablanca, A
AU  - Villablanca A
FAU - Alimov, A
AU  - Alimov A
FAU - Georgitsi, M
AU  - Georgitsi M
FAU - Raitila, A
AU  - Raitila A
FAU - Vahteristo, P
AU  - Vahteristo P
FAU - Larsson, C
AU  - Larsson C
FAU - Ruokonen, A
AU  - Ruokonen A
FAU - Eloranta, E
AU  - Eloranta E
FAU - Ebeling, T M L
AU  - Ebeling TM
FAU - Ignatius, J
AU  - Ignatius J
FAU - Aaltonen, L A
AU  - Aaltonen LA
FAU - Leisti, J
AU  - Leisti J
FAU - Salmela, P I
AU  - Salmela PI
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20090326
PL  - Italy
TA  - J Endocrinol Invest
JT  - Journal of endocrinological investigation
JID - 7806594
RN  - 0 (CASR protein, human)
RN  - 0 (CDC73 protein, human)
RN  - 0 (CDKN1B protein, human)
RN  - 0 (Intracellular Signaling Peptides and Proteins)
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 0 (Receptors, Calcium-Sensing)
RN  - 0 (Tumor Suppressor Proteins)
RN  - 0 (aryl hydrocarbon receptor-interacting protein)
RN  - 147604-94-2 (Cyclin-Dependent Kinase Inhibitor p27)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Adult
MH  - Cyclin-Dependent Kinase Inhibitor p27
MH  - DNA/chemistry/genetics
MH  - Female
MH  - Finland
MH  - Genetic Predisposition to Disease
MH  - Genetic Variation
MH  - Humans
MH  - Hyperparathyroidism, Primary/*genetics/pathology
MH  - Intracellular Signaling Peptides and Proteins/chemistry/genetics
MH  - Male
MH  - Middle Aged
MH  - Parathyroid Neoplasms/*genetics/pathology
MH  - Polymerase Chain Reaction
MH  - Proto-Oncogene Proteins/chemistry/genetics
MH  - Receptors, Calcium-Sensing/chemistry/genetics
MH  - Retrospective Studies
MH  - Sequence Analysis, DNA
MH  - Tumor Suppressor Proteins/chemistry/genetics
MH  - Young Adult
EDAT- 2009/05/29 09:00
MHDA- 2010/02/18 06:00
CRDT- 2009/05/29 09:00
PHST- 2009/05/29 09:00 [entrez]
PHST- 2009/05/29 09:00 [pubmed]
PHST- 2010/02/18 06:00 [medline]
AID - 6107 [pii]
AID - 10.1007/BF03346498 [doi]
PST - ppublish
SO  - J Endocrinol Invest. 2009 Jun;32(6):512-8. doi: 10.1007/BF03346498. Epub 2009 Mar 
      26.