PMID- 11446674
OWN - NLM
STAT- MEDLINE
DCOM- 20020621
LR  - 20190605
IS  - 0918-2918 (Print)
IS  - 0918-2918 (Linking)
VI  - 40
IP  - 6
DP  - 2001 Jun
TI  - A germline mutation, 1001delC, of the multiple endocrine neoplasia type 1 (MEN 1) 
      gene in a Japanese family.
PG  - 499-505
AB  - Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant inherited 
      disorder characterized by tumors of the enteropancreas, parathyroid and anterior 
      pituitary. The MEN 1 gene was recently cloned, and germline mutations of the gene 
      have been demonstrated in cases of MEN 1. Here, we report a Japanese family with 
      a germline mutation of the MEN 1 gene. The proband (44 y.o., male) had primary 
      hyperparathyroidism (PHP) and pancreatic carcinoid, and his older sister (50 
      y.o.) had a history of parathyroidectomy for primary hyperparathyroidism at the 
      age of 40. Clinical examination revealed no evidence of PHP or other MEN 
      1-related tumors in his son. Direct sequencing analysis revealed a heterozygous 
      germline mutation (1001delC) at codon 297 in exon 6 of the MEN 1 gene in the 
      proband and his son. Loss of heterozygosity (LOH) was also found in the resected 
      parathyroid tissue of the proband. The deletion of cytosine 1001 observed in this 
      case induces a frame shift, which causes the appearance of a stop codon (TAG) at 
      codon 367. This mutation appears to be associated with tumors of the endocrine 
      tissues in the cases studied.
FAU - Wada, S
AU  - Wada S
AD  - Fourth Department of Internal Medicine, Saitama Medical School, Irumagun. 
      wadas@saitama-med.ac.jp
FAU - Watanabe, M
AU  - Watanabe M
FAU - Tsukada, T
AU  - Tsukada T
FAU - Yasuda, S
AU  - Yasuda S
FAU - Yamaguchi, K
AU  - Yamaguchi K
FAU - Kitahama, S
AU  - Kitahama S
FAU - Iitaka, M
AU  - Iitaka M
FAU - Katayama, S
AU  - Katayama S
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Japan
TA  - Intern Med
JT  - Internal medicine (Tokyo, Japan)
JID - 9204241
SB  - IM
CIN - Intern Med. 2001 Jun;40(6):461-2. PMID: 11446664
MH  - Adult
MH  - *Germ-Line Mutation
MH  - Humans
MH  - Japan
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/diagnosis/*genetics
MH  - Pedigree
EDAT- 2001/07/12 10:00
MHDA- 2002/06/22 10:01
CRDT- 2001/07/12 10:00
PHST- 2001/07/12 10:00 [pubmed]
PHST- 2002/06/22 10:01 [medline]
PHST- 2001/07/12 10:00 [entrez]
AID - 10.2169/internalmedicine.40.499 [doi]
PST - ppublish
SO  - Intern Med. 2001 Jun;40(6):499-505. doi: 10.2169/internalmedicine.40.499.