PMID- 9929977
OWN - NLM
STAT- MEDLINE
DCOM- 19990301
LR  - 20041117
IS  - 1434-5161 (Print)
IS  - 1434-5161 (Linking)
VI  - 44
IP  - 1
DP  - 1999
TI  - Novel germline mutations of the MEN1 gene in Japanese patients with multiple 
      endocrine neoplasia type 1.
PG  - 43-7
AB  - Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder 
      characterized by tumors of the parathyroid glands, the pancreatic islet cells, 
      and the anterior pituitary. Germline mutations of the MEN1 gene in three 
      independent Japanese cases with MEN1 were analyzed. Case 1 has revealed a 2-bp 
      (TA) insertion at nucleotide position 341 (341insTA) in exon 2, which shifts the 
      reading frame such that the mutant protein has a completely different amino acid 
      sequence from codon 78 to the premature stop codon at 119. In case 2, a 
      nucleotide substitution, i.e., TAG in place of TGG, which encodes tryptophan at 
      codon 198 was identified (nonsense mutation). These mutations were heterozygously 
      present and have not been reported previously. Case 3 showed no mutations in the 
      protein-coding exons and exon-intron junctions of the MEN1 gene by single-strand 
      conformation polymorphism or direct sequencing of the polymerase chain reaction 
      (PCR) fragments. We confirmed the finding that patients with MEN1 carry 
      heterozygous germline mutations in the MEN1 gene, which is compatible with the 
      idea that the MEN1 gene is a tumor suppressor gene. The reason why mutations in 
      the coding region of the MEN1 gene could not be detected by PCR-based analysis in 
      some of the MEN1 patients, e.g. case 3, needs to be clarified further.
FAU - Hamaguchi, K
AU  - Hamaguchi K
AD  - Department of Internal Medicine I, Oita Medical University School of Medicine, 
      Japan. khamaguc@oita-med.ac.jp
FAU - Nguyen, D C
AU  - Nguyen DC
FAU - Yanase, T
AU  - Yanase T
FAU - Ikuyama, S
AU  - Ikuyama S
FAU - Goto, K
AU  - Goto K
FAU - Takayanagi, R
AU  - Takayanagi R
FAU - Nawata, H
AU  - Nawata H
FAU - Kusuda, Y
AU  - Kusuda Y
FAU - Fukagawa, K
AU  - Fukagawa K
FAU - Sakata, T
AU  - Sakata T
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - J Hum Genet
JT  - Journal of human genetics
JID - 9808008
RN  - 0 (DNA Primers)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - DNA Primers/genetics
MH  - Female
MH  - Genes, Tumor Suppressor
MH  - *Germ-Line Mutation
MH  - Humans
MH  - Japan
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Polymorphism, Single-Stranded Conformational
EDAT- 1999/02/04 00:00
MHDA- 1999/02/04 00:01
CRDT- 1999/02/04 00:00
PHST- 1999/02/04 00:00 [pubmed]
PHST- 1999/02/04 00:01 [medline]
PHST- 1999/02/04 00:00 [entrez]
AID - 10.1007/s100380050105 [doi]
PST - ppublish
SO  - J Hum Genet. 1999;44(1):43-7. doi: 10.1007/s100380050105.