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A novel mutation of the growth hormone receptor gene (GHR) in a Chinese girl with Laron syndrome.
- Source :
-
Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2003 Oct-Nov; Vol. 16 (8), pp. 1183-9. - Publication Year :
- 2003
-
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.
- 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
Subjects
Details
- Language :
- English
- ISSN :
- 0334-018X
- Volume :
- 16
- Issue :
- 8
- Database :
- MEDLINE
- Journal :
- Journal of pediatric endocrinology & metabolism : JPEM
- Publication Type :
- Academic Journal
- Accession number :
- 14594180
- Full Text :
- https://doi.org/10.1515/jpem.2003.16.8.1183