Pediatric Nephrology

, Volume 20, Issue 3, pp 303–305

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

  • Ron G. Rosenfeld
  • Eric Kofoed
  • Caroline Buckway
  • Brian Little
  • Katie A. Woods
  • Junko Tsubaki
  • Katherine A. Pratt
  • Liliana Bezrodnik
  • Hector Jasper
  • Alejandro Tepper
  • Juan J. Heinrich
  • Vivian Hwa
Review

DOI: 10.1007/s00467-004-1678-7

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

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.

Keywords

GrowthIGFGHSTAT5b

Copyright information

© IPNA 2005

Authors and Affiliations

  • Ron G. Rosenfeld
    • 1
    • 2
    • 3
  • Eric Kofoed
    • 3
  • Caroline Buckway
    • 3
  • Brian Little
    • 3
  • Katie A. Woods
    • 3
  • Junko Tsubaki
    • 3
  • Katherine A. Pratt
    • 3
  • Liliana Bezrodnik
    • 4
  • Hector Jasper
    • 4
  • Alejandro Tepper
    • 4
  • Juan J. Heinrich
    • 4
  • Vivian Hwa
    • 3
  1. 1.Lucile Packard Foundation for Children’s HealthPalo AltoUSA
  2. 2.Department of PediatricsStanford University School of MedicineStanfordUSA
  3. 3.Department of PediatricsOregon Health & Science UniversityPortlandUSA
  4. 4.Departments of Endocrinology and PulmonologyHospital General de Ninos Ricardo GutierrezBuenos AiresArgentina