RGD Reference Report - Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene. - Rat Genome Database

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Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene.

Authors: Tatsumi, K  Miyai, K  Notomi, T  Kaibe, K  Amino, N  Mizuno, Y  Kohno, H 
Citation: Tatsumi K, etal., Nat Genet. 1992 Apr;1(1):56-8.
RGD ID: 1601432
Pubmed: PMID:1302000   (View Abstract at PubMed)
DOI: DOI:10.1038/ng0492-56   (Journal Full-text)

Cretinism is marked by irreversible mental and growth retardation. We describe here an entirely new case of cretinism showing combined pituitary hormone deficiencies of thyrotropin, growth hormone and prolactin that appears to be caused by homozygosity for a nonsense mutation in the gene for the pituitary specific transcription activator, Pit-1/GHF-1 (designated PIT1 in humans for pituitary specific factor 1). This is the first report in humans of a defect in a transcription activator causing deficiency of multiple target genes.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
POU1F1Humanpituitary gland disease  IAGP combined piuitary hormone deficiency and DNA:point mutation:exon:R172XRGD 
Pou1f1Ratpituitary gland disease  ISOPOU1F1 (Homo sapiens)combined piuitary hormone deficiency and DNA:point mutation:exon:R172XRGD 
Pou1f1Mousepituitary gland disease  ISOPOU1F1 (Homo sapiens)combined piuitary hormone deficiency and DNA:point mutation:exon:R172XRGD 

Objects Annotated

Genes (Rattus norvegicus)
Pou1f1  (POU class 1 homeobox 1)

Genes (Mus musculus)
Pou1f1  (POU domain, class 1, transcription factor 1)

Genes (Homo sapiens)
POU1F1  (POU class 1 homeobox 1)


Additional Information