PMID- 10534569
OWN - NLM
STAT- MEDLINE
DCOM- 19991215
LR  - 20190516
IS  - 1107-3756 (Print)
IS  - 1107-3756 (Linking)
VI  - 4
IP  - 5
DP  - 1999 Nov
TI  - Germline mutations in the MEN1 gene: creation of a new splice acceptor site and
      insertion of 7 intron nucleotides into the mRNA.
PG  - 483-5
AB  - The MEN1 tumor predisposition syndrome is caused by mutations in the MEN1 gene on
      human chromosome 11q13. We screened MEN1 gene exons 1-10 and flanking intron
      sequences from four different MEN1 families for mutations. In three families,
      heterozygous germline mutations within the exons were found, two of these
      representing novel mutations. In another family, all clinically affected members 
      were heterozygous for a point mutation Gright curved arrow A within intron 4.
      Sequence analysis of cDNA from lymphocytes of the affected patients revealed that
      the intron mutation created a new acceptor splice site, leading to the inclusion 
      of 7 bp of intronic sequence into the mRNA. The resulting frameshift generates a 
      premature stop in codon 271. Intron borders should thus be screened for mutations
      in MEN1 diagnostics and cDNA sequence analysis is helpful in identifying
      pathophysiological consequences of intron mutations.
FAU - Engelbach, M
AU  - Engelbach M
AD  - Department of Internal Medicine and Endocrinology, D-55131 Mainz, Germany.
FAU - Forst, T
AU  - Forst T
FAU - Hankeln, T
AU  - Hankeln T
FAU - Tratzky, M
AU  - Tratzky M
FAU - Heerdt, S
AU  - Heerdt S
FAU - Pfutzner, A
AU  - Pfutzner A
FAU - Kann, P
AU  - Kann P
FAU - Kunt, T
AU  - Kunt T
FAU - Schneider, S
AU  - Schneider S
FAU - Schmidt, E R
AU  - Schmidt ER
FAU - Beyer, J
AU  - Beyer J
LA  - eng
SI  - GENBANK/AJ132593
SI  - GENBANK/AJ132594
SI  - GENBANK/AJ132595
SI  - GENBANK/AJ132596
PT  - Journal Article
PL  - Greece
TA  - Int J Mol Med
JT  - International journal of molecular medicine
JID - 9810955
RN  - 0 (DNA, Complementary)
RN  - 0 (MEN1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 0 (RNA, Messenger)
SB  - IM
MH  - Alternative Splicing/*genetics
MH  - Base Sequence
MH  - Chromosomes, Human, Pair 11/genetics
MH  - DNA Mutational Analysis
MH  - DNA, Complementary/isolation & purification
MH  - Germ-Line Mutation/*genetics
MH  - Humans
MH  - Introns/*genetics
MH  - Molecular Sequence Data
MH  - Neoplasm Proteins/*genetics
MH  - *Proto-Oncogene Proteins
MH  - RNA, Messenger/*genetics
EDAT- 1999/10/27 00:00
MHDA- 1999/10/27 00:01
CRDT- 1999/10/27 00:00
PHST- 1999/10/27 00:00 [pubmed]
PHST- 1999/10/27 00:01 [medline]
PHST- 1999/10/27 00:00 [entrez]
AID - 10.3892/ijmm.4.5.483 [doi]
PST - ppublish
SO  - Int J Mol Med. 1999 Nov;4(5):483-5. doi: 10.3892/ijmm.4.5.483.