PMID: 18406284Apr 15, 2008Paper

Lessons from the genetics of laron syndrome

Trends in Endocrinology and Metabolism : TEM
A L Rosenbloom, J Guevara-Aguirre

Abstract

In the decade since the cloning and sequencing of the growth hormone receptor (GHR) and the recognition that the circulating GH-binding protein (GHBP) is structurally identical to the extracellular domain of the GHR, 34 mutations have been described. These include one deletion, eight nonsense mutations, eleven missense mutations, four frameshift mutations and ten splice mutations. More than half of the 131 patients with Laron syndrome whose molecular defects have been identified comprise the Ecuadorian cohort who share a single splice mutation. Variable expression of different homozygous or compound heterozygous defects of the GHR is no greater than the variation within a genetically homogeneous population. Some features, such as birth size and intelligence, are unlikely to be affected by GHRD. Greater understanding of the genetics, physiology, and clinical expression of abnormalities in the GH-GHR-IGF-I (insulin-like growth factor I) axis necessitates a reconsideration of the classification of GH insensitivity (GHI).

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Citations

Nov 6, 2001·Clinica Chimica Acta; International Journal of Clinical Chemistry·K C Leung, K K Ho
Sep 10, 2002·Trends in Endocrinology and Metabolism : TEM·Joanne C Blair, Martin O Savage
Dec 15, 2006·Growth Hormone & IGF Research : Official Journal of the Growth Hormone Research Society and the International IGF Research Society·O Shevah, Z Laron
Aug 16, 2015·Growth Hormone & IGF Research : Official Journal of the Growth Hormone Research Society and the International IGF Research Society·Arlan L Rosenbloom
Dec 12, 2001·Growth Hormone & IGF Research : Official Journal of the Growth Hormone Research Society and the International IGF Research Society·Y DaganZ Laron
May 12, 2018·International Journal of Molecular Sciences·Shudai LinXiquan Zhang
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Feb 11, 2003·Molecular Endocrinology·Jürgen GentGer J Strous
Sep 7, 2006·The Journal of Clinical Endocrinology and Metabolism·Arlan L Rosenbloom, Jaime Guevara-Aguirre

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