PMID- 10395230
OWN - NLM
STAT- MEDLINE
DCOM- 19990824
LR  - 20190905
IS  - 0918-8959 (Print)
IS  - 0918-8959 (Linking)
VI  - 45
IP  - 6
DP  - 1998 Dec
TI  - A family of MEN1 with a novel germline missense mutation and benign 
      polymorphisms.
PG  - 753-9
AB  - The gene responsible for multiple endocrine neoplasia type 1 (MEN1) has recently 
      been cloned, and its germline mutations were identified in patients with this 
      syndrome. The majority of the mutations, frameshift or nonsense mutations, are 
      expected to result in a loss of function of the gene product menin. Since the 
      consequence of less common missense or in-frame deletion mutations is not clear, 
      careful judgment is necessary regarding the role(s) of such mutations in MEN1 
      disease. Here we describe a large multigenerational MEN1 family with a novel 
      germline missense mutation and three benign polymorphisms. The proband was a man 
      with hyperparathyroidism and thymic carcinoid. We performed biochemical studies 
      and DNA analyses of the MEN1 gene simultaneously and independently as family 
      screening studies. Seven patients including the proband were identified, and all 
      of them carried a heterozygous germline missense mutation E45G, but 5 members 
      with normal biochemical results did not. This mutation was not observed in 50 
      normal volunteers. This novel missense mutation is therefore almost conclusively 
      responsible for the disease. Although all of the mutant gene carriers in the 
      present study already had clinical diseases, an MEN1 gene analysis in younger 
      individuals at risk would be very useful in identifying carriers before the onset 
      of the symptoms.
FAU - Miyauchi, A
AU  - Miyauchi A
AD  - Second Department of Surgery, Kagawa Medical University, Japan.
FAU - Sato, M
AU  - Sato M
FAU - Matsubara, S
AU  - Matsubara S
FAU - Ohye, H
AU  - Ohye H
FAU - Kihara, M
AU  - Kihara M
FAU - Matsusaka, K
AU  - Matsusaka K
FAU - Nishitani, A
AU  - Nishitani A
FAU - Takahara, J
AU  - Takahara J
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Japan
TA  - Endocr J
JT  - Endocrine journal
JID - 9313485
SB  - IM
MH  - Adult
MH  - Carcinoid Tumor/complications
MH  - *Germ-Line Mutation
MH  - Heterozygote
MH  - Humans
MH  - Hyperparathyroidism/complications/genetics
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/blood/*genetics
MH  - *Mutation, Missense
MH  - Pedigree
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Genetic
MH  - Thymus Neoplasms/complications
EDAT- 1999/07/08 00:00
MHDA- 1999/07/08 00:01
CRDT- 1999/07/08 00:00
PHST- 1999/07/08 00:00 [pubmed]
PHST- 1999/07/08 00:01 [medline]
PHST- 1999/07/08 00:00 [entrez]
AID - 10.1507/endocrj.45.753 [doi]
PST - ppublish
SO  - Endocr J. 1998 Dec;45(6):753-9. doi: 10.1507/endocrj.45.753.