PMID- 9888389
OWN - NLM
STAT- MEDLINE
DCOM- 19990311
LR  - 20061115
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 13
IP  - 1
DP  - 1999
TI  - Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine 
      neoplasia type 1 and related diseases.
PG  - 54-60
AB  - Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder 
      characterized by tumors in parathyroids, enteropancreatic endocrine tissues, 
      anterior pituitary, and other tissues. The gene for MEN1 has recently been cloned 
      and shown to code for a 610-amino acid protein of enigmatic function which 
      probably acts as a tumor suppressor. Several mutations causing the MEN1 phenotype 
      have been recently identified. In order to determine the spectrum of MEN1 gene 
      mutations in a sample of 25 Belgian patients, we have systematically screened the 
      10 exons and adjacent sequences of the MEN1 gene by means of an automatic 
      sequencing protocol. Twelve different mutations were identified including 
      nonsense, frameshift, splicing, and missense mutations. Two of these mutations 
      (D172Y and 357del4) occurred more than once. A missense mutation was also found 
      in a kindred with familial hyperparathyroidism. We observed no significant 
      correlation between the nature or position of mutation and the clinical status. 
      We have also detected 6 intragenic polymorphisms and DNA sequence variants and 
      have analyzed their frequencies in our population.
FAU - Poncin, J
AU  - Poncin J
AD  - Department of Medical Genetics, University Hospital, Univeriste de Liege, 
      Belgium. jponcin@chu.ulg.ac.be
FAU - Abs, R
AU  - Abs R
FAU - Velkeniers, B
AU  - Velkeniers B
FAU - Bonduelle, M
AU  - Bonduelle M
FAU - Abramowicz, M
AU  - Abramowicz M
FAU - Legros, J J
AU  - Legros JJ
FAU - Verloes, A
AU  - Verloes A
FAU - Meurisse, M
AU  - Meurisse M
FAU - Van Gaal, L
AU  - Van Gaal L
FAU - Verellen, C
AU  - Verellen C
FAU - Koulischer, L
AU  - Koulischer L
FAU - Beckers, A
AU  - Beckers A
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (MEN1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Belgium
MH  - DNA Mutational Analysis
MH  - Female
MH  - Frameshift Mutation/*genetics
MH  - Germ-Line Mutation/*genetics
MH  - Humans
MH  - Male
MH  - Microsatellite Repeats/genetics
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Mutation, Missense/*genetics
MH  - Neoplasm Proteins/*genetics
MH  - Pedigree
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Genetic
MH  - *Proto-Oncogene Proteins
EDAT- 1999/01/15 03:01
MHDA- 2000/06/22 10:00
CRDT- 1999/01/15 03:01
PHST- 1999/01/15 03:01 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1999/01/15 03:01 [entrez]
AID - 10.1002/(SICI)1098-1004(1999)13:1<54::AID-HUMU6>3.0.CO;2-K [pii]
AID - 10.1002/(SICI)1098-1004(1999)13:1<54::AID-HUMU6>3.0.CO;2-K [doi]
PST - ppublish
SO  - Hum Mutat. 1999;13(1):54-60. doi: 
      10.1002/(SICI)1098-1004(1999)13:1<54::AID-HUMU6>3.0.CO;2-K.