PMID- 10811291
OWN - NLM
STAT- MEDLINE
DCOM- 20000719
LR  - 20221207
IS  - 0918-8959 (Print)
IS  - 0918-8959 (Linking)
VI  - 47
IP  - 1
DP  - 2000 Feb
TI  - Different phenotypes of multiple endocrine neoplasia type 1 (MEN1) in monozygotic 
      twins found in a Japanese MEN1 family with MEN1 gene mutation.
PG  - 37-43
AB  - We report monozygotic twins who showed different MEN1 phenotypes. The proband (28 
      y.o., female) had both primary hyperparathyroidism (PHP) and insulinoma, and 
      genetic analysis revealed a point mutation (569del1, exon 3) of the MEN1 gene. 
      This mutation causes a frameshift and produces a stop codon at codon 184. 
      Restriction digestion (HinfI) analysis confirmed the same mutation of the MEN1 
      gene in six of the affected members including her two sisters, the monozygotic 
      twins, and no such mutation in two unaffected members. In two generations of this 
      family, eight of eleven family members had PHP and four of them were found to 
      have other MEN1-related lesions. Both of the monozygotic twins had PHP. 
      Interestingly, one had pancreatic tumor but the other had no evidence of it. 
      Pituitary MRI showed no pituitary lesion in either of them. This is the first 
      Japanese case of monozygotic twins with different MEN1 phenotypes.
FAU - Namihira, H
AU  - Namihira H
AD  - First Department of Internal Medicine, Kagawa Medical University, , Kita-gun, 
      Japan.
FAU - Sato, M
AU  - Sato M
FAU - Miyauchi, A
AU  - Miyauchi A
FAU - Ohye, H
AU  - Ohye H
FAU - Matsubara, S
AU  - Matsubara S
FAU - Bhuiyan, M M
AU  - Bhuiyan MM
FAU - Murao, K
AU  - Murao K
FAU - Ameno, S
AU  - Ameno S
FAU - Ameno, K
AU  - Ameno K
FAU - Ijiri, I
AU  - Ijiri I
FAU - Takahara, J
AU  - Takahara J
LA  - eng
PT  - Journal Article
PL  - Japan
TA  - Endocr J
JT  - Endocrine journal
JID - 9313485
SB  - IM
MH  - Adult
MH  - Asian People/genetics
MH  - Base Sequence/genetics
MH  - Diseases in Twins/*genetics
MH  - Female
MH  - *Frameshift Mutation
MH  - Humans
MH  - Japan
MH  - Male
MH  - Middle Aged
MH  - Molecular Sequence Data
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Pedigree
MH  - Phenotype
MH  - *Twins, Monozygotic
EDAT- 2000/05/16 09:00
MHDA- 2000/07/25 11:00
CRDT- 2000/05/16 09:00
PHST- 2000/05/16 09:00 [pubmed]
PHST- 2000/07/25 11:00 [medline]
PHST- 2000/05/16 09:00 [entrez]
AID - 10.1507/endocrj.47.37 [doi]
PST - ppublish
SO  - Endocr J. 2000 Feb;47(1):37-43. doi: 10.1507/endocrj.47.37.