Human skin fibroblasts as a model of growth hormone (GH) action in GH receptor-positive Laron's syndrome

Endocrinology
J S FreethP E Clayton

Abstract

Congenital GH insensitivity (Laron's syndrome, LS) is often associated with a dysfunctional GH receptor (GHR) causing complete insensitivity to GH and absent serum GH-binding protein (GHBP). However, a proportion of children with LS have normal GHBP levels. We have identified four girls from two families with this condition (height SD score, -3.4 to -6.8) and undertaken studies on 1) their GHR genes and 2) their GH responses in cultured skin fibroblasts to define the etiology of their GH insensitivities. No GHR gene mutations were identified in one family. In the other family, the affected siblings, an unaffected brother, and the father were heterozygous for a point mutation within exon 6 (D152H). In addition, use of intron 9 haplotypes to determine linkage to the GHR gene implied inheritance of different maternal GHR alleles in the two affected girls of the latter family. It is unlikely, therefore, that the D152H mutation alone could account for the LS phenotype. End points of GH action [DNA synthesis, insulin-like growth factor-binding protein-3 (IGFBP-3) messenger RNA (mRNA) and peptide production] in skin fibroblast cultures established from three of the LS subjects and four normal children were examined. Whereas normal fib...Continue Reading

Citations

Jun 5, 1998·Archives of Disease in Childhood·P E Clayton, V Tillmann
Oct 29, 2009·American Journal of Physiology. Endocrinology and Metabolism·Melissa WestwoodPeter E Clayton
Jan 21, 2014·Growth Hormone & IGF Research : Official Journal of the Growth Hormone Research Society and the International IGF Research Society·Paula OcaranzaFernando Cassorla
Mar 6, 2016·General and Comparative Endocrinology·Pan HongXin Zheng
Feb 5, 2016·Growth Hormone & IGF Research : Official Journal of the Growth Hormone Research Society and the International IGF Research Society·Paula OcaranzaFernando Cassorla
Jun 20, 2002·Endocrinology·Corinne M SilvaPeter E Clayton
Dec 13, 2003·Endocrine Reviews·Stephanie R EdmondsonChristopher J Wraight
Sep 30, 2008·Arquivos brasileiros de endocrinologia e metabologia·Alexander Augusto de Lima Jorge
Jun 27, 2002·American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice·Gerhard Baumann

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