RGD Reference Report - Nine novel growth hormone receptor gene mutations in patients with Laron syndrome. - Rat Genome Database

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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.
RGD ID: 11567215
Pubmed: PMID:9024232   (View Abstract at PubMed)
DOI: DOI:10.1210/jcem.82.2.3725   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Laron syndrome  IAGP 11567215DNA:nonsense more ...RGD 
Laron syndrome  ISOGHR (Homo sapiens)11567215; 11567215DNA:nonsense more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ghr  (growth hormone receptor)

Genes (Mus musculus)
Ghr  (growth hormone receptor)

Genes (Homo sapiens)
GHR  (growth hormone receptor)


Additional Information