PMID- 10395226
OWN - NLM
STAT- MEDLINE
DCOM- 19990824
LR  - 20190905
IS  - 0918-8959 (Print)
IS  - 0918-8959 (Linking)
VI  - 45
IP  - 6
DP  - 1998 Dec
TI  - Germline mutation of the multiple endocrine neoplasia type 1 (MEN1) gene in a 
      family with primary hyperparathyroidism.
PG  - 719-23
AB  - Familial primary hyperparathyroidism (FHP) is a rare hereditary disorder 
      characterized by isolated parathyroid tumors without any other lesions related to 
      multiple endocrine neoplasia (MEN). Primary hyperparathyroidism is usually 
      expressed at an early age and is highly penetrated in MEN type 1 (MEN1), 
      suggesting that some FHP may be a variant type or early stage of MEN1. 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 studied a Japanese family 
      with primary hyperparathyroidism which included 4 patients. To investigate the 
      possible relationship between primary hyperparathyroidism in this family and the 
      MEN1 gene, we analyzed a proband for a germline mutation of the MEN1 gene in this 
      study. We identified a novel heterozygous mutation (1350del3) at codon 414 in 
      exon 9. Restriction digestion analysis revealed the same mutation pattern in his 
      brother with hyperparathyroidism. These findings suggest that our patients may 
      belong to a variant type of 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 - Imachi, H
AU  - Imachi H
FAU - Murao, K
AU  - Murao K
FAU - Takahara, J
AU  - Takahara J
LA  - eng
PT  - Journal Article
PL  - Japan
TA  - Endocr J
JT  - Endocrine journal
JID - 9313485
RN  - 0 (MEN1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adult
MH  - Humans
MH  - Hyperparathyroidism/diagnosis/*genetics/surgery
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - *Mutation
MH  - Neoplasm Proteins/*genetics
MH  - Parathyroidectomy
MH  - Pedigree
MH  - Polymerase Chain Reaction
MH  - *Proto-Oncogene Proteins
MH  - Restriction Mapping
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.45.719 [doi]
PST - ppublish
SO  - Endocr J. 1998 Dec;45(6):719-23. doi: 10.1507/endocrj.45.719.