PMID- 9437237
OWN - NLM
STAT- MEDLINE
DCOM- 19980205
LR  - 20190905
IS  - 0804-4643 (Print)
IS  - 0804-4643 (Linking)
VI  - 137
IP  - 6
DP  - 1997 Dec
TI  - Menin mutations in patients with multiple endocrine neoplasia type 1.
PG  - 684-7
AB  - Multiple endocrine neoplasia type 1 (MEN-1) is a familial cancer syndrome with 
      parathyroid, pituitary and enteropancreatic tumors. The disease phenotype 
      segregates with markers on chromosome 11q13. Very recently a new gene was cloned 
      from this region and was found to carry mutations in 14 of 15 unrelated MEN-1 
      patients. The gene was termed menin and is predicted to code for a tumor 
      suppressor protein of 610 amino acids, but its precise function is totally 
      unknown. To confirm this finding we used PCR from genomic DNA and direct 
      sequencing to analyze exons 2 through 10 of the menin gene in eight patients from 
      four pedigrees with MEN-1 syndrome or an affected relative. We identified four 
      different heterozygous mutations, three of them are novel: one nonsense mutation, 
      one large deletion of 32 bp and two insertions, all of them located in exon 2. 
      Our results confirm that patients with MEN-1 carry mutations in the menin gene.
FAU - Mayr, B
AU  - Mayr B
AD  - Abteilung Klinische Endokrinologie, Medizinische Hochschule Hannover, Germany.
FAU - Apenberg, S
AU  - Apenberg S
FAU - Rothamel, T
AU  - Rothamel T
FAU - von zur Muhlen, A
AU  - von zur Muhlen A
FAU - Brabant, G
AU  - Brabant G
LA  - eng
PT  - Journal Article
PL  - England
TA  - Eur J Endocrinol
JT  - European journal of endocrinology
JID - 9423848
RN  - 0 (MEN1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adult
MH  - Female
MH  - Heterozygote
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Neoplasm Proteins/*genetics
MH  - Pedigree
MH  - Point Mutation
MH  - Polymorphism, Restriction Fragment Length
MH  - *Proto-Oncogene Proteins
EDAT- 1998/01/23 00:00
MHDA- 1998/01/23 00:01
CRDT- 1998/01/23 00:00
PHST- 1998/01/23 00:00 [pubmed]
PHST- 1998/01/23 00:01 [medline]
PHST- 1998/01/23 00:00 [entrez]
AID - 10.1530/eje.0.1370684 [doi]
PST - ppublish
SO  - Eur J Endocrinol. 1997 Dec;137(6):684-7. doi: 10.1530/eje.0.1370684.