PMID- 22447146
OWN - NLM
STAT- MEDLINE
DCOM- 20121127
LR  - 20190907
IS  - 1348-4540 (Electronic)
IS  - 0918-8959 (Linking)
VI  - 59
IP  - 6
DP  - 2012
TI  - A novel splice site mutation of the MEN1 gene identified in a patient with 
      primary hyperparathyroidism.
PG  - 523-30
AB  - Heterozygous germline mutation of the tumor suppressor gene MEN1 is responsible 
      for multiple endocrine neoplasia type 1 (MEN1), a familial cancer syndrome 
      characterized by pituitary, parathyroid and enteropancreatic tumors. Various 
      mutations have been identified throughout the entire gene region in patients with 
      MEN1 and its incomplete forms often manifested as familial isolated 
      hyperparathyroidism and apparently sporadic parathyroid tumor. Mutation analysis 
      of the MEN1 gene is a powerful tool for the early diagnosis of MEN1; however, the 
      clinical significance of the identified mutations is not always obvious. In this 
      study, a previously unreported missense MEN1 mutation, c.824G>T was identified in 
      a patient with primary hyperparathyroidism and evaluated for its pathogenicity. 
      This mutation was predicted to generate a putative missense menin protein, R275M. 
      A stability test of the menin protein demonstrated that the stability of R275M 
      mutant was reduced only slightly as compared with wild type menin, and therefore 
      could not preclude the possibility that it was a rare benign polymorphism. 
      However, further analysis of leukocyte mRNA and minigene experiments indicated 
      that the mutant c.824G>T allele gives rise to abnormally spliced menin mRNA, and 
      thereby confirmed that c.824G>T mutation is causative for MEN1. Thus, leukocyte 
      mRNA analysis has been demonstrated useful to identify a splicing mutation of the 
      MEN1 gene.
FAU - Nagamura, Yuko
AU  - Nagamura Y
AD  - Division of Familial Cancer Research, National Cancer Center Research Institute, 
      Tokyo, Japan.
FAU - Yamazaki, Masanori
AU  - Yamazaki M
FAU - Shimazu, Satoko
AU  - Shimazu S
FAU - Sano, Kenji
AU  - Sano K
FAU - Tsukada, Toshihiko
AU  - Tsukada T
FAU - Sakurai, Akihiro
AU  - Sakurai A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20120323
PL  - Japan
TA  - Endocr J
JT  - Endocrine journal
JID - 9313485
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 0 (RNA, Messenger)
SB  - IM
MH  - Adult
MH  - DNA Mutational Analysis
MH  - Female
MH  - Germ-Line Mutation
MH  - Heterozygote
MH  - Humans
MH  - Hyperparathyroidism, Primary/*genetics
MH  - Mutation, Missense
MH  - Parathyroid Neoplasms/*genetics
MH  - Pregnancy
MH  - Pregnancy Complications, Neoplastic/*genetics
MH  - Protein Stability
MH  - Proto-Oncogene Proteins/*genetics
MH  - RNA, Messenger/*analysis
EDAT- 2012/03/27 06:00
MHDA- 2012/12/10 06:00
CRDT- 2012/03/27 06:00
PHST- 2012/03/27 06:00 [entrez]
PHST- 2012/03/27 06:00 [pubmed]
PHST- 2012/12/10 06:00 [medline]
AID - JST.JSTAGE/endocrj/EJ12-0037 [pii]
AID - 10.1507/endocrj.ej12-0037 [doi]
PST - ppublish
SO  - Endocr J. 2012;59(6):523-30. doi: 10.1507/endocrj.ej12-0037. Epub 2012 Mar 23.