PMID- 10724357
OWN - NLM
STAT- MEDLINE
DCOM- 20000411
LR  - 20190905
IS  - 0918-8959 (Print)
IS  - 0918-8959 (Linking)
VI  - 46
IP  - 6
DP  - 1999 Dec
TI  - No evidence of germline mutation or somatic deletion of the MEN1 gene in a case 
      of familial multiple endocrine neoplasia type 1 (MEN1).
PG  - 811-6
AB  - The MEN1 gene has recently been cloned as the gene responsible for multiple 
      endocrine neoplasia type 1 (MEN1) and its germline mutations have been identified 
      in a number of familial MEN1 patients. However, mutation-negative cases have also 
      been reported in some MEN1 families. We report here a Japanese MEN1 family, 
      including a proband with no evidence of MEN1 gene mutation. The proband (51 y.o., 
      female) had three major MEN1 lesions, including primary hyperparathyroidism (HP), 
      prolactinoma, and pancreatic tumor. Her father and brother had HP, and her 
      daughter had both HP and prolactinoma. When we analyzed the proband for a 
      germline mutation of the MEN1 gene, the direct sequencing analysis showed no 
      mutation in the coding region, on the promoter, 5' and 3' untranslated regions of 
      the MEN1 gene. We next examined the loss of heterozygosity (LOH) in the proband's 
      parathyroid tumors using two benign polymorphisms (C2249G in intron 1 and 
      2248del3 in exon 10) in the MEN1 gene to detect LOH. LOH was not found in any of 
      the four separate regions of the tumor tissues.
FAU - Namihira, H
AU  - Namihira H
AD  - First Department of Internal Medicine, Kagawa Medical University, Japan.
FAU - Sato, M
AU  - Sato M
FAU - Matsubara, S
AU  - Matsubara S
FAU - Ohye, H
AU  - Ohye H
FAU - Bhuiyan, M
AU  - Bhuiyan M
FAU - Murao, K
AU  - Murao K
FAU - Takahara, J
AU  - Takahara J
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Japan
TA  - Endocr J
JT  - Endocrine journal
JID - 9313485
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - DNA/genetics
MH  - Female
MH  - *Gene Deletion
MH  - *Germ-Line Mutation
MH  - Heterozygote
MH  - Humans
MH  - Loss of Heterozygosity
MH  - Magnetic Resonance Imaging
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/diagnosis/*genetics
MH  - Pedigree
MH  - Polymorphism, Genetic
MH  - Radiography, Abdominal
MH  - Tomography, X-Ray Computed
EDAT- 2000/03/21 09:00
MHDA- 2000/04/15 09:00
CRDT- 2000/03/21 09:00
PHST- 2000/03/21 09:00 [pubmed]
PHST- 2000/04/15 09:00 [medline]
PHST- 2000/03/21 09:00 [entrez]
AID - 10.1507/endocrj.46.811 [doi]
PST - ppublish
SO  - Endocr J. 1999 Dec;46(6):811-6. doi: 10.1507/endocrj.46.811.