Identification of the first patient with a confirmed mutation of the JAK-STAT system.
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.
Rosenfeld
Ron G
RG
Lucile Packard Foundation for Children's Health, 770 Welch Road, Suite 350, Palo Alto, CA 94304, USA. ron.rosenfeld@lpfch.org
Kofoed
Eric
E
Buckway
Caroline
C
Little
Brian
B
Woods
Katie A
KA
Tsubaki
Junko
J
Pratt
Katherine A
KA
Bezrodnik
Liliana
L
Jasper
Hector
H
Tepper
Alejandro
A
Heinrich
Juan J
JJ
Hwa
Vivian
V
D000293:Adolescent; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D053614:Janus Kinase 2; D008894:Milk Proteins / Q000235:genetics*; D009154:Mutation; D011505:Protein-Tyrosine Kinases / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D050799:STAT5 Transcription Factor; D015534:Trans-Activators / Q000235:genetics*
D004268:DNA-Binding Proteins; D008894:Milk Proteins; D011518:Proto-Oncogene Proteins; D050799:STAT5 Transcription Factor; C494095:STAT5B protein, human; D015534:Trans-Activators; D011505:Protein-Tyrosine Kinases; C507924:JAK2 protein, human; D053614:Janus Kinase 2