PMID- 12402974
OWN - NLM
STAT- MEDLINE
DCOM- 20030403
LR  - 20190906
IS  - 0918-8959 (Print)
IS  - 0918-8959 (Linking)
VI  - 49
IP  - 4
DP  - 2002 Aug
TI  - A kindred of familial acromegaly without evidence for linkage to MEN-1 locus.
PG  - 425-31
AB  - Familial acromegaly (FA) is a rare inherited disease characterized by clustering 
      of somatotrophic adenomas and acromegaly within a family without other 
      manifestations of multiple endocrine neoplasia-type 1 (MEN-1). The genetic basis 
      of this pituitary-specific phenotype is largely unknown, and its relationship to 
      the MEN-1 locus on chromosome 11q13 also remains unclear. To test the hypothesis 
      that FA results from a germline mutation of the MEN-1 locus, we performed a 
      linkage analysis in a Japanese family with 2 members showing manifestations of 
      acromegaly due to somatotroph adenomas. We also examined the adenoma of one 
      patient for loss of heterozygosity (LOH) at 11q13 locus and for the presence of 
      mutations of codon 201 and 227 in the gene for Gsalpha. Our results provided no 
      evidence that either germline alterations of the MEN-1 locus, LOH at 11q13, or 
      somatic mutation of Gsalpha plays a causative role in the development of 
      somatotroph adenomas in our FA family. Together with the previous reports, these 
      results suggest that there are at least two distinct subgroups of FA: one that 
      results from a mutation in MEN-1 locus and the other whose causative gene is 
      located outside the 11q13 locus.
FAU - Tamura, Yoshiaki
AU  - Tamura Y
AD  - Department of Metabolic Diseases, Faculty of Medicine, University of Tokyo, 
      Japan.
FAU - Ishibashi, Shun
AU  - Ishibashi S
FAU - Gotoda, Takanari
AU  - Gotoda T
FAU - Yasufuku-Takano, Junko
AU  - Yasufuku-Takano J
FAU - Takano, Koji
AU  - Takano K
FAU - Ueki, Keisuke
AU  - Ueki K
FAU - Yamashita, Shigeo
AU  - Yamashita S
FAU - Iizuka, Yoko
AU  - Iizuka Y
FAU - Yahagi, Naoya
AU  - Yahagi N
FAU - Shionoiri, Futoshi
AU  - Shionoiri F
FAU - Okazaki, Hiroaki
AU  - Okazaki H
FAU - Ohashi, Ken
AU  - Ohashi K
FAU - Osuga, Jun-ichi
AU  - Osuga J
FAU - Harada, Kenji
AU  - Harada K
FAU - Shimano, Hitoshi
AU  - Shimano H
FAU - Fujita, Toshiro
AU  - Fujita T
FAU - Yamada, Nobuhiro
AU  - Yamada N
FAU - Kimura, Satoshi
AU  - Kimura S
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - Japan
TA  - Endocr J
JT  - Endocrine journal
JID - 9313485
RN  - EC 3.6.5.1 (GTP-Binding Protein alpha Subunits, Gs)
SB  - IM
MH  - Acromegaly/*genetics
MH  - Adult
MH  - *Chromosome Mapping
MH  - GTP-Binding Protein alpha Subunits, Gs/genetics
MH  - *Genetic Linkage
MH  - Humans
MH  - Loss of Heterozygosity
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Pedigree
MH  - Point Mutation
RF  - 33
EDAT- 2002/10/31 04:00
MHDA- 2003/04/04 05:00
CRDT- 2002/10/31 04:00
PHST- 2002/10/31 04:00 [pubmed]
PHST- 2003/04/04 05:00 [medline]
PHST- 2002/10/31 04:00 [entrez]
AID - 10.1507/endocrj.49.425 [doi]
PST - ppublish
SO  - Endocr J. 2002 Aug;49(4):425-31. doi: 10.1507/endocrj.49.425.