PMID- 10812010
OWN - NLM
STAT- MEDLINE
DCOM- 20000627
LR  - 20190516
IS  - 1107-3756 (Print)
IS  - 1107-3756 (Linking)
VI  - 5
IP  - 6
DP  - 2000 Jun
TI  - Internally shortened menin protein as a consequence of alternative RNA splicing 
      due to a germline deletion in the multiple endocrine neoplasia type 1 gene.
PG  - 611-4
AB  - Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominantly inherited 
      cancer syndrome (OMIM 131100), with tumours in several endocrine glands. In 1997 
      the responsible tumour suppressor gene was identified and recently it was shown 
      that menin, its encoded protein, represses JunD-activated gene expression. 
      Although many MEN 1 patients have been investigated both clinically and 
      genetically, no genotype-phenotype correlation has been found yet. The vast 
      majority of MEN1 gene mutations involve point mutations. We describe a patient in 
      whom a 26 base pair deletion in the MEN1 gene, comprising part of exon 3 and part 
      of intron 3, causes activation of a cryptic donor splice site at the beginning of 
      exon 3. This germline mutation results in an in frame deletion of 105 nucleotides 
      in MEN1 gene mRNA, i.e. an internal deletion of 35 amino acids in the menin 
      protein. Since the deleted region of menin has been implicated in binding to 
      JunD, this may explain the tumourigenic effect of this mutation. The knowledge of 
      this MEN1 gene germline defect, may be used for presymptomatic identification of 
      MEN 1 disease gene-carriers among family-members of this proband. This enables 
      early detection of tumour development, timely treatment and genetic counseling.
FAU - Roijers, J F
AU  - Roijers JF
AD  - Department of Internal Medicine, University Medical Center Utrecht, The 
      Netherlands.
FAU - Apel, T
AU  - Apel T
FAU - Neumann, H P
AU  - Neumann HP
FAU - Arnim, U V
AU  - Arnim UV
FAU - Lips, C J
AU  - Lips CJ
FAU - Hoppener, J W
AU  - Hoppener JW
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Greece
TA  - Int J Mol Med
JT  - International journal of molecular medicine
JID - 9810955
RN  - 0 (MEN1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adult
MH  - *Alternative Splicing
MH  - Exons
MH  - Female
MH  - *Germ-Line Mutation
MH  - Humans
MH  - Introns
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Neoplasm Proteins/*metabolism
MH  - *Proto-Oncogene Proteins
MH  - *Sequence Deletion
EDAT- 2000/05/17 09:00
MHDA- 2000/07/06 11:00
CRDT- 2000/05/17 09:00
PHST- 2000/05/17 09:00 [pubmed]
PHST- 2000/07/06 11:00 [medline]
PHST- 2000/05/17 09:00 [entrez]
AID - 10.3892/ijmm.5.6.611 [doi]
PST - ppublish
SO  - Int J Mol Med. 2000 Jun;5(6):611-4. doi: 10.3892/ijmm.5.6.611.