PMID- 9747036
OWN - NLM
STAT- MEDLINE
DCOM- 19981022
LR  - 20041117
IS  - 1434-5161 (Print)
IS  - 1434-5161 (Linking)
VI  - 43
IP  - 3
DP  - 1998
TI  - Novel MEN1 gene mutations in familial multiple endocrine neoplasia type 1.
PG  - 199-201
AB  - The recent isolation of the gene responsible for multiple endocrine neoplasia 
      type 1 (MEN 1) has enabled direct genetic diagnosis for people with endocrine 
      tumors and family members of affected patients. Although MEN 1 is rarely 
      recognized in the Japanese population compared to its prevalence in Caucasians, 
      we have previously reported a high prevalence of this disease in a limited area 
      (Nagano Prefecture; population, 2.15 million). In this communication, we report 
      mutations of the MEN1 gene in kindreds living in Nagano Prefecture. The absence 
      of a common mutation among these kindreds indicates that the high prevalence of 
      MEN 1 in this area is not due to a regional accumulation of patients descended 
      from a common ancestor. This result implies that the prevalence of MEN 1 in other 
      areas of Japan could also be higher than had been thought.
FAU - Sakurai, A
AU  - Sakurai A
AD  - Department of Geriatrics, Endocrinology and Metabolism, Shinshu University School 
      of Medicine, Matsumoto, Japan. bakabon@gipac.shinshu-u.ac.jp
FAU - Shirahama, S
AU  - Shirahama S
FAU - Fujimori, M
AU  - Fujimori M
FAU - Katai, M
AU  - Katai M
FAU - Itakura, Y
AU  - Itakura Y
FAU - Kobayashi, S
AU  - Kobayashi S
FAU - Amano, J
AU  - Amano J
FAU - Fukushima, Y
AU  - Fukushima Y
FAU - Hashizume, K
AU  - Hashizume K
LA  - eng
PT  - Journal Article
PL  - England
TA  - J Hum Genet
JT  - Journal of human genetics
JID - 9808008
RN  - 0 (MEN1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Frameshift Mutation
MH  - Germ-Line Mutation
MH  - Humans
MH  - Japan
MH  - Multiple Endocrine Neoplasia Type 1/epidemiology/*genetics
MH  - Mutagenesis, Insertional
MH  - *Mutation
MH  - Neoplasm Proteins/*genetics
MH  - Prevalence
MH  - *Proto-Oncogene Proteins
MH  - Sequence Deletion
EDAT- 1998/09/25 00:00
MHDA- 1998/09/25 00:01
CRDT- 1998/09/25 00:00
PHST- 1998/09/25 00:00 [pubmed]
PHST- 1998/09/25 00:01 [medline]
PHST- 1998/09/25 00:00 [entrez]
AID - 10.1007/s100380050070 [doi]
PST - ppublish
SO  - J Hum Genet. 1998;43(3):199-201. doi: 10.1007/s100380050070.