Identification of the first patient with a confirmed mutation of the JAK-STAT system
- First Online:
- Cite this article as:
- Rosenfeld, R.G., Kofoed, E., Buckway, C. et al. Pediatr Nephrol (2005) 20: 303. doi:10.1007/s00467-004-1678-7
- 102 Views
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.