PMID- 9506756
OWN - NLM
STAT- MEDLINE
DCOM- 19980414
LR  - 20061115
IS  - 0021-972X (Print)
IS  - 0021-972X (Linking)
VI  - 83
IP  - 3
DP  - 1998 Mar
TI  - Absence of germ-line mutations of the multiple endocrine neoplasia type 1 (MEN1) 
      gene in familial pituitary adenoma in contrast to MEN1 in Japanese.
PG  - 960-5
AB  - Germ-line mutations of the MEN1 gene were analyzed in five cases of familial and 
      four cases of sporadic multiple endocrine neoplasia type 1 (MEN-1), six cases in 
      three independent pedigrees of familial pituitary adenoma without MEN-1, and 
      three cases of familial isolated primary hyperparathyroidism (FIHP) in Japanese. 
      Eight different types of germ-line mutations in all nine cases of MEN-1 were 
      distributed in exons 2, 3, 7, and 10 and intron 7 of the MEN1 gene. Loss of 
      heterozygosity (LOH) on 11q13 was detected in all nine tumors of these cases with 
      microsatellite analysis. No germ-line mutation of the MEN1 gene was detected in 
      three pedigrees of familial pituitary adenoma and three cases of FIHP. LOH on 
      11q13 was detected in two cases in one pedigree of familial pituitary adenoma, 
      and one of them showed a heterozygous somatic mutation of the MEN1 gene. No LOH 
      on 11q13 was detected in three cases of FIHP. Based on these, we conclude that 
      the loss of function of menin is etiological for familial or sporadic MEN-1, but 
      not for FIHP or most familial pituitary adenoma without MEN-1.
FAU - Tanaka, C
AU  - Tanaka C
AD  - Otsuka Department of Clinical and Molecular Nutrition, The University of 
      Tokushima School of Medicine, Tokushima-City, Japan.
FAU - Yoshimoto, K
AU  - Yoshimoto K
FAU - Yamada, S
AU  - Yamada S
FAU - Nishioka, H
AU  - Nishioka H
FAU - Ii, S
AU  - Ii S
FAU - Moritani, M
AU  - Moritani M
FAU - Yamaoka, T
AU  - Yamaoka T
FAU - Itakura, M
AU  - Itakura M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - J Clin Endocrinol Metab
JT  - The Journal of clinical endocrinology and metabolism
JID - 0375362
RN  - 9007-49-2 (DNA)
SB  - IM
CIN - J Clin Endocrinol Metab. 1998 Aug;83(8):3004-5. PMID: 9709985
MH  - Adenoma/*genetics
MH  - Adult
MH  - Aged
MH  - Chromosomes, Human, Pair 11
MH  - DNA/genetics
MH  - Exons/genetics
MH  - Female
MH  - Germ-Line Mutation/*genetics
MH  - Humans
MH  - Hyperparathyroidism/genetics
MH  - Introns/genetics
MH  - Japan/ethnology
MH  - Loss of Heterozygosity/genetics
MH  - Male
MH  - Microsatellite Repeats
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Pituitary Neoplasms/*genetics
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Single-Stranded Conformational
EDAT- 1998/03/20 00:00
MHDA- 1998/03/20 00:01
CRDT- 1998/03/20 00:00
PHST- 1998/03/20 00:00 [pubmed]
PHST- 1998/03/20 00:01 [medline]
PHST- 1998/03/20 00:00 [entrez]
AID - 10.1210/jcem.83.3.4653 [doi]
PST - ppublish
SO  - J Clin Endocrinol Metab. 1998 Mar;83(3):960-5. doi: 10.1210/jcem.83.3.4653.