PMID- 15635078
OWN - NLM
STAT- MEDLINE
DCOM- 20060303
LR  - 20181113
IS  - 1468-6244 (Electronic)
IS  - 0022-2593 (Print)
IS  - 0022-2593 (Linking)
VI  - 42
IP  - 1
DP  - 2005 Jan
TI  - A report of a national mutation testing service for the MEN1 gene: clinical 
      presentations and implications for mutation testing.
PG  - 69-74
AB  - INTRODUCTION: Mutation testing for the MEN1 gene is a useful method to diagnose 
      and predict individuals who either have or will develop multiple endocrine 
      neoplasia type 1 (MEN 1). Clinical selection criteria to identify patients who 
      should be tested are needed, as mutation analysis is costly and time consuming. 
      This study is a report of an Australian national mutation testing service for the 
      MEN1 gene from referred patients with classical MEN 1 and various MEN 1-like 
      conditions. RESULTS: All 55 MEN1 mutation positive patients had a family history 
      of hyperparathyroidism, had hyperparathyroidism with one other MEN1 related 
      tumour, or had hyperparathyroidism with multiglandular hyperplasia at a young 
      age. We found 42 separate mutations and six recurring mutations from unrelated 
      families, and evidence for a founder effect in five families with the same 
      mutation. DISCUSSION: Our results indicate that mutations in genes other than 
      MEN1 may cause familial isolated hyperparathyroidism and familial isolated 
      pituitary tumours. CONCLUSIONS: We therefore suggest that routine germline MEN1 
      mutation testing of all cases of "classical" MEN1, familial hyperparathyroidism, 
      and sporadic hyperparathyroidism with one other MEN1 related condition is 
      justified by national testing services. We do not recommend routine sequencing of 
      the promoter region between nucleotides 1234 and 1758 (Genbank accession no. 
      U93237) as we could not detect any sequence variations within this region in any 
      familial or sporadic cases of MEN1 related conditions lacking a MEN1 mutation. We 
      also suggest that testing be considered for patients <30 years old with sporadic 
      hyperparathyroidism and multigland hyperplasia.
FAU - Cardinal, J W
AU  - Cardinal JW
AD  - Department of Diabetes and Endocrinology, Princess Alexandra Hospital, Ipswich 
      Rd, Woolloongabba, Brisbane 4102, Australia. jcardinal@soms.uq.edu.au
FAU - Bergman, L
AU  - Bergman L
FAU - Hayward, N
AU  - Hayward N
FAU - Sweet, A
AU  - Sweet A
FAU - Warner, J
AU  - Warner J
FAU - Marks, L
AU  - Marks L
FAU - Learoyd, D
AU  - Learoyd D
FAU - Dwight, T
AU  - Dwight T
FAU - Robinson, B
AU  - Robinson B
FAU - Epstein, M
AU  - Epstein M
FAU - Smith, M
AU  - Smith M
FAU - Teh, B T
AU  - Teh BT
FAU - Cameron, D P
AU  - Cameron DP
FAU - Prins, J B
AU  - Prins JB
LA  - eng
SI  - GENBANK/U93237
PT  - Journal Article
PL  - England
TA  - J Med Genet
JT  - Journal of medical genetics
JID - 2985087R
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Australia
MH  - DNA/genetics/isolation & purification
MH  - DNA Mutational Analysis/*methods
MH  - Germ-Line Mutation
MH  - Humans
MH  - Hyperparathyroidism/genetics
MH  - Molecular Sequence Data
MH  - Multiple Endocrine Neoplasia Type 1/classification/*genetics
MH  - Mutation
MH  - Proto-Oncogene Proteins/*genetics
PMC - PMC1735899
EDAT- 2005/01/07 09:00
MHDA- 2006/03/04 09:00
PMCR- 2008/01/01
CRDT- 2005/01/07 09:00
PHST- 2005/01/07 09:00 [pubmed]
PHST- 2006/03/04 09:00 [medline]
PHST- 2005/01/07 09:00 [entrez]
PHST- 2008/01/01 00:00 [pmc-release]
AID - 42/1/69 [pii]
AID - 10.1136/jmg.2003.017319 [doi]
PST - ppublish
SO  - J Med Genet. 2005 Jan;42(1):69-74. doi: 10.1136/jmg.2003.017319.