PMID- 12417605
OWN - NLM
STAT- MEDLINE
DCOM- 20021112
LR  - 20190513
IS  - 0368-2811 (Print)
IS  - 0368-2811 (Linking)
VI  - 32
IP  - 9
DP  - 2002 Sep
TI  - A novel six-nucleotide insertion in exon 4 of the MEN1 gene, 878insCTGCAG, in 
      three patients with familial insulinoma and primary hyperparathyroidism.
PG  - 368-70
AB  - Three Japanese patients (a man and his two sons) in a family with clinical 
      diagnosis of familial multiple endocrine neoplasia type 1 (MEN1) suffered from 
      insulinoma(s), primary hyperparathyroidism and pituitary microadenoma. Genomic 
      DNA of the patients was analyzed by sequencing for the MEN1 gene and an insertion 
      of six nucleotides, CTGCAG, in exon 4, resulting in insertion of two amino acids, 
      Leu-Gln, after the 256th amino acid of the menin (256insLQ), was identified. 
      CTGCAG is a palindromic sequence and repeated twice in the wild-type allele 
      (nucleotides 879-890). It is speculated that mutations involving only exon 4 of 
      the MEN1 gene might induce development of insulinoma(s).
FAU - Okamoto, Hiroomi
AU  - Okamoto H
AD  - Department of Laboratory Medicine, Kyoto University Graduate School of Medicine, 
      Kyoto, Japan.
FAU - Tamada, Aiko
AU  - Tamada A
FAU - Hai, Noritaka
AU  - Hai N
FAU - Doi, Masaru
AU  - Doi M
FAU - Uchimura, Isao
AU  - Uchimura I
FAU - Hirata, Yukio
AU  - Hirata Y
FAU - Kosugi, Shinji
AU  - Kosugi S
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Jpn J Clin Oncol
JT  - Japanese journal of clinical oncology
JID - 0313225
RN  - 0 (Nucleotides)
SB  - IM
MH  - Adult
MH  - Exons/genetics
MH  - *Germ-Line Mutation
MH  - Humans
MH  - Hyperparathyroidism/*genetics
MH  - Insulinoma/*genetics
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Nucleotides/genetics
MH  - Pancreatic Neoplasms/*genetics
MH  - Pedigree
MH  - Sequence Analysis, DNA
EDAT- 2002/11/06 04:00
MHDA- 2002/11/26 04:00
CRDT- 2002/11/06 04:00
PHST- 2002/11/06 04:00 [pubmed]
PHST- 2002/11/26 04:00 [medline]
PHST- 2002/11/06 04:00 [entrez]
AID - 10.1093/jjco/hyf079 [doi]
PST - ppublish
SO  - Jpn J Clin Oncol. 2002 Sep;32(9):368-70. doi: 10.1093/jjco/hyf079.