Identification of the first patient with a confirmed mutation of the JAK-STAT system

Pediatr Nephrol. 2005 Mar;20(3):303-5. doi: 10.1007/s00467-004-1678-7. Epub 2005 Feb 2.

Abstract

Growth hormone insensitivity (GHI) has been attributable, classically, to mutations in the gene for the GH receptor. After binding to the GH receptor, GH initiates signal transduction through a number of pathways, including the JAK-STAT pathway. We describe the first patient reported with a mutation in the gene for STAT5b, a protein critical for the transcriptional regulation of insulin-like growth factor-I.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • DNA-Binding Proteins / genetics*
  • Female
  • Humans
  • Janus Kinase 2
  • Milk Proteins / genetics*
  • Mutation*
  • Protein-Tyrosine Kinases / genetics*
  • Proto-Oncogene Proteins / genetics*
  • STAT5 Transcription Factor
  • Trans-Activators / genetics*

Substances

  • DNA-Binding Proteins
  • Milk Proteins
  • Proto-Oncogene Proteins
  • STAT5 Transcription Factor
  • STAT5B protein, human
  • Trans-Activators
  • Protein-Tyrosine Kinases
  • JAK2 protein, human
  • Janus Kinase 2