Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Nine novel growth hormone receptor gene mutations in patients with Laron syndrome.

Authors: Sobrier, ML  Dastot, F  Duquesnoy, P  Kandemir, N  Yordam, N  Goossens, M  Amselem, S 
Citation: Sobrier ML, etal., J Clin Endocrinol Metab. 1997 Feb;82(2):435-7.
Pubmed: (View Article at PubMed) PMID:9024232
DOI: Full-text: DOI:10.1210/jcem.82.2.3725

The GH receptor (GHR) is a member of the cytokine receptor superfamily; GH binding protein is the solubilized extracellular domain of the GHR. Abnormalities in the GHR produce an autosomal recessive form of GH resistance, the Laron syndrome, characterized by growth failure and the clinical appearance of severe GH deficiency despite elevated circulating GH levels. In 13 unrelated patients with undetectable levels of GH binding protein, we characterized nine novel mutations in the GHR gene. These molecular defects comprise three nonsense mutations (Q65X, W80X, and W157X), one frameshift (36delC), two splice defects (G-->A at 70 + 1, C-->T at 723), and three missense mutations (C38S, S40L, and W50R) located in the extracellular domain of the receptor, and thus would be expected to interfere with GH binding activity. These results further confirm the broad heterogeneity of mutations underlying this rare GH resistance syndrome.


Disease Annotations
Objects Annotated

Additional Information

RGD Object Information
RGD ID: 11567215
Created: 2016-12-01
Species: All species
Last Modified: 2016-12-01
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.