Novel growth hormone receptor gene mutation in a patient with Laron syndrome.
Growth Hormone (GH) is a 22 kDa protein that has effects on growth and glucose and fat metabolisms. These effects are initiated by binding of growth hormone (GH) to growth hormone receptors (GHR) expressed in target cells. Mutations or deletions in the growth hormone receptor cause an autosomal disorder called Laron-type dwarfism (LS) characterized by high circulating levels of serum GH and low levels of insulin like growth factor-1 (IGF-1). We analyzed the GHR gene for genetic defect in seven patients identified as Laron type dwarfism. We identified two missense mutations (S40L and W104R), and four polymorphisms (S473S, L526I, G168G and exon 3 deletion). We are reporting a mutation (W104R) at exon 5 of GHR gene that is not previously reported, and it is a novel mutation.
Arman
Ahmet
A
The Faculty of Engineering, Marmara University, Turkey. ahmetarman@marmara.edu.tr
Yüksel
Bilgin
B
Coker
Ajda
A
Sarioz
Ozlem
O
Temiz
Fatih
F
Topaloglu
Ali Kemal
AK
D002648:Child; D002675:Child, Preschool; D005260:Female; D019382:Human Growth Hormone / Q000097:blood; D006801:Humans; D018972:Insulin-Like Growth Factor Binding Protein 3 / Q000097:blood; D007334:Insulin-Like Growth Factor I / Q000378:metabolism; D046150:Laron Syndrome / Q000097:blood / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics; D011986:Receptors, Somatotropin / Q000235:genetics*
D018972:Insulin-Like Growth Factor Binding Protein 3; D011986:Receptors, Somatotropin; D019382:Human Growth Hormone; D007334:Insulin-Like Growth Factor I