New growth hormone receptor exon 9 mutation causes genetic short stature
- 1 February 1999
- journal article
- case report
- Published by Wiley in Acta Paediatrica
- Vol. 88 (s428) , 168-172
- https://doi.org/10.1111/j.1651-2227.1999.tb14380.x
Abstract
A novel form of congenital growth hormone insensitivity syndrome (GHIS), which lacks the classic phenotype associated with this condition, is described. Dominant inheritance is shown to result from a heterozygous 876-1 G to C transversion of the 3' splice acceptor site preceding exon 9 in the growth hormone receptor (GHR) gene. The result of this mutation is a severely truncated cytoplasmic domain of the GHR, which is incapable of transmitting a signal. The mutant receptor is shown to form a heterodimer with the wild-type GHR, the activity of which is inhibited in a dominant-negative manner.Keywords
This publication has 17 references indexed in Scilit:
- A dominant-negative mutation of the growth hormone receptor causes familial short statureNature Genetics, 1997
- A Short Isoform of the Human Growth Hormone Receptor Functions as a Dominant Negative Inhibitor of the Full-Length Receptor and Generates Large Amounts of Binding ProteinMolecular Endocrinology, 1997
- Differential activation of Stat3 and Stat5 by distinct regions of the growth hormone receptorMolecular Endocrinology, 1996
- The proline-rich region of the GH receptor is essential for JAK2 phosphorylation, activation of cell proliferation, and gene transcriptionMolecular Endocrinology, 1995
- Cytokine receptor signalling through two novel families of transducer molecules: Janus kinases, and signal transducers and activators of transcriptionJournal of Endocrinology, 1995
- Identification of Phenylalanine 346 in the Rat Growth Hormone Receptor as Being Critical for Ligand-mediated Internalization and Down-regulationPublished by Elsevier ,1995
- Evidence for generation of the growth hormone-binding protein through proteolysis of the growth hormone membrane receptorEndocrinology, 1993
- Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndromeHuman Mutation, 1992
- Dimerization of the Extracellular Domain of the Human Growth Hormone Receptor by a Single Hormone MoleculeScience, 1991
- Growth hormone receptor and serum binding protein: purification, cloning and expressionNature, 1987