PMID- 12813918
OWN - NLM
STAT- MEDLINE
DCOM- 20030731
LR  - 20181130
IS  - 0065-7778 (Print)
IS  - 0065-7778 (Linking)
VI  - 114
DP  - 2003
TI  - Isolated familial somatotropinomas: clinical and genetic considerations.
PG  - 165-77
AB  - The majority of somatotropinomas (GH-secreting pituitary adenomas) are sporadic, 
      through a few occur with a familial aggregation, either as a component of 
      multiple endocrine neoplasia, type 1 (MEN1) or Carney complex, or when 
      unassociated with other tumors, as isolated familial somatotropinomas (IFS). The 
      latter is a rare disorder associated with loss of heterozygosity (LOH) on 
      chromosome 11q13, the locus of the MEN1 gene. However, MEN1 sequence and 
      expression are normal, suggesting the presence of another tumor suppressor gene 
      within this locus that affects somatotrope proliferation. To further define the 
      candidate interval, we performed haplotype and allelotype analyses in six 
      families with IFS. The combined results have mapped the gene involved in the 
      pathogenesis of IFS to a region of 9.7 Mb (7.6 cM) on chromosome 11q13.1-13.3. 
      Identification of the IFS gene should provide new insight into the pathogenesis 
      not only of this disorder but also of sporadic somatotropinomas.
FAU - Frohman, Lawrence A
AU  - Frohman LA
AD  - Section of Endocrinology, Department of Medicine, University of Illinois at 
      Chicago, 1819 W. Polk Street (MC 640), Chicago, Illinois 60612, USA.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Trans Am Clin Climatol Assoc
JT  - Transactions of the American Clinical and Climatological Association
JID - 7507559
RN  - 9002-72-6 (Growth Hormone)
SB  - IM
MH  - Adenoma/*genetics/metabolism
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Alleles
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 11/genetics
MH  - Chromosomes, Human, Pair 17/genetics
MH  - Chromosomes, Human, Pair 2/genetics
MH  - Female
MH  - Genetic Linkage
MH  - Growth Hormone/*metabolism
MH  - Haplotypes
MH  - Humans
MH  - Loss of Heterozygosity
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/genetics/metabolism
MH  - Pedigree
MH  - Pituitary Neoplasms/*genetics/metabolism
PMC - PMC2194520
EDAT- 2003/06/20 05:00
MHDA- 2003/08/02 05:00
PMCR- 2003/01/01
CRDT- 2003/06/20 05:00
PHST- 2003/06/20 05:00 [pubmed]
PHST- 2003/08/02 05:00 [medline]
PHST- 2003/06/20 05:00 [entrez]
PHST- 2003/01/01 00:00 [pmc-release]
PST - ppublish
SO  - Trans Am Clin Climatol Assoc. 2003;114:165-77.