A novel mutation of the growth hormone receptor gene (GHR) in a Chinese girl with Laron syndrome.
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.
Peking Union Medical College, Capital Institute of Pediatrics, Beijing, China. cxlwx@sina.com
Xiaoli
X
Chen
Fang
F
Song
Yaohua
Y
Dai
Xiulan
X
Bao
Yuwei
Y
Jin
D000365:Age Determination by Skeleton / Q000379:methods; D000483:Alleles; D044466:Asian People; D001483:Base Sequence; D002352:Carrier Proteins / Q000097:blood / Q000187:drug effects / Q000235:genetics; D002648:Child; D002681:China; D017124:Conserved Sequence / Q000235:genetics; D004393:Dwarfism, Pituitary / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D005091:Exons; D005260:Female; D013006:Growth Hormone / Q000097:blood; D006720:Homozygote; D006801:Humans; D018972:Insulin-Like Growth Factor Binding Protein 3 / Q000097:blood; D007334:Insulin-Like Growth Factor I / Q000378:metabolism; D008239:Lysine / Q000096:biosynthesis / Q000235:genetics; D017354:Point Mutation / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D011986:Receptors, Somatotropin / Q000187:drug effects / Q000235:genetics* / Q000502:physiology; D012689:Sequence Homology, Nucleic Acid
D002352:Carrier Proteins; D018972:Insulin-Like Growth Factor Binding Protein 3; D011986:Receptors, Somatotropin; D007334:Insulin-Like Growth Factor I; D013006:Growth Hormone; D008239:Lysine; C051815:somatotropin-binding protein