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

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

Growth IGF GH STAT5b 

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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

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