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

K Tatsumi; K Miyai; T Notomi; K Kaibe; N Amino; Y Mizuno; H Kohno

doi:10.1038/ng0492-56

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

Nat Genet. 1992 Apr;1(1):56-8. doi: 10.1038/ng0492-56.

Authors

K Tatsumi¹, K Miyai, T Notomi, K Kaibe, N Amino, Y Mizuno, H Kohno

Affiliation

¹ Department of Laboratory Medicine, Osaka University Medical School, Japan.

PMID: 1302000
DOI: 10.1038/ng0492-56

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Sequence
Base Sequence
Congenital Hypothyroidism / genetics*
Congenital Hypothyroidism / metabolism*
Consanguinity
DNA / genetics
DNA-Binding Proteins / genetics*
Female
Growth Hormone / deficiency
Hormones / deficiency*
Humans
Male
Molecular Sequence Data
Pedigree
Point Mutation
Prolactin / deficiency
Thyrotropin / deficiency
Transcription Factor Pit-1
Transcription Factors / genetics*

Substances

DNA-Binding Proteins
Hormones
POU1F1 protein, human
Transcription Factor Pit-1
Transcription Factors
Prolactin
Thyrotropin
Growth Hormone
DNA