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  • Title: A novel mutation of the growth hormone receptor gene (GHR) in a Chinese girl with Laron syndrome.
    Author: Chen X, Song F, Dai Y, Bao X, Jin Y.
    Journal: J Pediatr Endocrinol Metab; 2003; 16(8):1183-9. PubMed ID: 14594180.
    Abstract:
    Laron syndrome, also known as growth hormone insensitivity syndrome (GHIS), is an autosomal recessive genetic disorder associated with severe postnatal growth failure, and normal and/or elevated growth hormone. This disease is frequently caused by a point mutation in the growth hormone receptor gene (GHR). Here, we identified a novel homozygous substitution mutation (E42K: GAG-->AAG at codon 42 cDNA) of the GHR gene in a Chinese girl with Laron syndrome. This mutation was predicted to impair the GHR binding affinity to human growth hormone (hGH), and was responsible for low levels of insulin-like growth factor (IGF)-I, IGF binding protein (IGFBP)-3, and GH binding protein (GHBP) in serum.
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