PMID- 12213668
OWN - NLM
STAT- MEDLINE
DCOM- 20021029
LR  - 20230411
IS  - 0804-4643 (Print)
IS  - 0804-4643 (Linking)
VI  - 147
IP  - 3
DP  - 2002 Sep
TI  - Involvement of the MEN1 gene locus in familial isolated hyperparathyroidism.
PG  - 313-22
AB  - BACKGROUND: Familial isolated hyperparathyroidism (FIHP) is a hereditary disorder 
      characterised by uni- or multiglandular parathyroid disease. A subset of families 
      are likely to be genetic variants of other familial tumour syndromes in which 
      PHPT is the main feature, for example multiple endocrine neoplasia type 1 (MEN 1) 
      and the hyperparathyroidism-jaw tumour syndrome (HPT-JT). OBJECTIVE: To 
      investigate seven families diagnosed with FIHP, each with two to eight affected 
      family members, to clarify the underlying genetic mechanism. METHODS: The entire 
      MEN1 gene was sequenced for germline mutations and, in addition, tumour specimens 
      were analysed in comparative genomic hybridisation and loss of heterozygosity 
      studies. RESULTS: Two families exhibited MEN1 mutations, L112V and 1658delG, 
      which were associated with loss of the wild-type 11q13 alleles in all tumours 
      analysed. In the remaining five families, no MEN1 mutation was identified. 
      CONCLUSION: These results support the involvement of the MEN1 tumour suppressor 
      gene in the pathogenesis of some of the FIHP kindreds. However, loss on 
      chromosome 11 was seen in all tumours exhibiting somatic deletions, although in 
      two families the tumour deletions involved 11q distal to MEN1. We conclude that 
      the altered MEN1 gene function is of importance in the development of FIHP.
FAU - Villablanca, Andrea
AU  - Villablanca A
AD  - Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden. 
      Andrea.Villablanca@cmm.ki.se
FAU - Wassif, Wassif S
AU  - Wassif WS
FAU - Smith, Thomas
AU  - Smith T
FAU - Hoog, Anders
AU  - Hoog A
FAU - Vierimaa, Outi
AU  - Vierimaa O
FAU - Kassem, Moustapha
AU  - Kassem M
FAU - Dwight, Trisha
AU  - Dwight T
FAU - Forsberg, Lars
AU  - Forsberg L
FAU - Du, Quan
AU  - Du Q
FAU - Learoyd, Diana
AU  - Learoyd D
FAU - Jones, Keston
AU  - Jones K
FAU - Stranks, Steve
AU  - Stranks S
FAU - Juhlin, Claes
AU  - Juhlin C
FAU - Teh, Bin Tean
AU  - Teh BT
FAU - Carling, Tobias
AU  - Carling T
FAU - Robinson, Bruce
AU  - Robinson B
FAU - Larsson, Catharina
AU  - Larsson C
LA  - eng
SI  - OMIM/145000
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Eur J Endocrinol
JT  - European journal of endocrinology
JID - 9423848
SB  - IM
MH  - Adult
MH  - Aged
MH  - Chromosomes, Human, Pair 11
MH  - DNA Mutational Analysis
MH  - Female
MH  - Gene Deletion
MH  - Genetic Linkage
MH  - Genotype
MH  - Germ-Line Mutation
MH  - Haplotypes
MH  - Humans
MH  - Hyperparathyroidism/*genetics
MH  - Loss of Heterozygosity
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Nucleic Acid Hybridization
MH  - Pedigree
MH  - Sequence Analysis, DNA
EDAT- 2002/09/06 10:00
MHDA- 2002/10/31 04:00
CRDT- 2002/09/06 10:00
PHST- 2002/09/06 10:00 [pubmed]
PHST- 2002/10/31 04:00 [medline]
PHST- 2002/09/06 10:00 [entrez]
AID - 1470313 [pii]
AID - 10.1530/eje.0.1470313 [doi]
PST - ppublish
SO  - Eur J Endocrinol. 2002 Sep;147(3):313-22. doi: 10.1530/eje.0.1470313.