1. A novel mutation of the growth hormone receptor gene (GHR) in a Chinese girl with Laron syndrome.
- Author
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Chen X, Song F, Dai Y, Bao X, and Jin Y
- Subjects
- Age Determination by Skeleton methods, Alleles, Base Sequence, Carrier Proteins blood, Carrier Proteins drug effects, Carrier Proteins genetics, Child, China, Conserved Sequence genetics, Dwarfism, Pituitary diagnosis, Dwarfism, Pituitary physiopathology, Exons, Female, Growth Hormone blood, Homozygote, Humans, Insulin-Like Growth Factor Binding Protein 3 blood, Insulin-Like Growth Factor I metabolism, Lysine biosynthesis, Lysine genetics, Polymorphism, Single-Stranded Conformational, Receptors, Somatotropin drug effects, Receptors, Somatotropin physiology, Sequence Homology, Nucleic Acid, Asian People, Dwarfism, Pituitary genetics, Point Mutation genetics, Receptors, Somatotropin genetics
- 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.
- Published
- 2003
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