PMID- 10460018
OWN - NLM
STAT- MEDLINE
DCOM- 19990928
LR  - 20190905
IS  - 0918-8959 (Print)
IS  - 0918-8959 (Linking)
VI  - 46
IP  - 2
DP  - 1999 Apr
TI  - A novel germline mutation of multiple endocrine neoplasia type 1 (MEN1) gene in a 
      Japanese MEN1 patient and her daughter.
PG  - 325-9
AB  - Familial multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant 
      inherited disorder characterized by tumors of the parathyroid, anterior pituitary 
      and gastro-entero-pancreatic endocrine tissues. The MEN1 gene has recently been 
      cloned and its germline mutations have been considered to play an important role 
      in the tumorigenesis of MEN1. We analyzed a Japanese MEN1 patient and her 
      daughter for germline mutations of the MEN1 gene. The proband (60 y.o.) had 
      primary hyperparathyroidism (PHP) and gastrinoma, and her daughter (30 y.o.) had 
      prolactinoma. Clinical examinations revealed no evidence of PHP in the daughter. 
      We identified a novel heterozygous germline mutation (712 A del) at codon 201 in 
      exon 3 of the MEN1 gene in the proband. Restriction digestion analysis revealed 
      the same mutation pattern in her daughter. These findings suggest that this 
      family has familial MEN1 including a rare case of MEN1 with a single lesion of 
      the pituitary. Genetic examinations are useful as diagnostic tools for any rare 
      or variant case of familial MEN1.
FAU - Ohye, H
AU  - Ohye H
AD  - First Department of Internal Medicine, Kagawa Medical University, Japan.
FAU - Sato, M
AU  - Sato M
FAU - Matsubara, S
AU  - Matsubara S
FAU - Miyauchi, A
AU  - Miyauchi A
FAU - Kishi-Imai, K
AU  - Kishi-Imai K
FAU - Murao, K
AU  - Murao K
FAU - Takahara, J
AU  - Takahara J
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Japan
TA  - Endocr J
JT  - Endocrine journal
JID - 9313485
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Adult
MH  - Alleles
MH  - Base Sequence/genetics
MH  - DNA/genetics
MH  - Female
MH  - Gastrinoma/genetics
MH  - Gene Deletion
MH  - *Germ-Line Mutation/*genetics
MH  - Humans
MH  - Hyperparathyroidism/genetics
MH  - Magnetic Resonance Imaging
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/diagnosis/*genetics
MH  - Pancreatic Neoplasms/genetics
MH  - Pedigree
MH  - Pituitary Neoplasms/genetics
MH  - Prolactinoma/genetics
EDAT- 1999/08/25 00:00
MHDA- 1999/08/25 00:01
CRDT- 1999/08/25 00:00
PHST- 1999/08/25 00:00 [pubmed]
PHST- 1999/08/25 00:01 [medline]
PHST- 1999/08/25 00:00 [entrez]
AID - 10.1507/endocrj.46.325 [doi]
PST - ppublish
SO  - Endocr J. 1999 Apr;46(2):325-9. doi: 10.1507/endocrj.46.325.