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      A novel mutation of the growth hormone receptor gene (GHR) in a Chinese girl with Laron syndrome.

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          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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          Author and article information

          Journal
          J. Pediatr. Endocrinol. Metab.
          Journal of pediatric endocrinology & metabolism : JPEM
          0334-018X
          0334-018X
          November 5 2003
          : 16
          : 8
          Affiliations
          [1 ] Peking Union Medical College, Capital Institute of Pediatrics, Beijing, China. cxlwx@sina.com
          Article
          14594180

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