[Novel nonsense mutation (p.Y113X) in the human growth hormone receptor gene in a Brazilian patient with Laron syndrome].
BACKGROUND
To date, about sixty different mutations within GH receptor (GHR) gene have been described in patients with GH insensitivity syndrome (GHI). In this report, we described a novel nonsense mutation of GHR.


METHODS
The patient was evaluated at the age of 6 yr, for short stature associated to clinical phenotype of GHI. GH, IGF-1, and GHBP levels were determined. The PCR products from exons 2-10 were sequenced.


RESULTS
The patient had high GH (26 microg/L), low IGF-1 (22.5 ng/ml) and undetectable GHBP levels. The sequencing of GHR exon 5 disclosed adenine duplication at nucleotide 338 of GHR coding sequence (c.338dupA) in homozygous state.


CONCLUSIONS
We described a novel mutation that causes a truncated GHR and a loss of receptor function due to the lack of amino acids comprising the transmembrane and intracellular regions of GHR protein, leading to GHI.
Diniz
Erik Trovão
ET
Hospital Agamenon Magalhães, Sistema Unico de Saúde, Universidade de Pernambuco, Recife, PE, Brasil. erik_td@hotmail.com
Jorge
Alexander A L
AA
Arnhold
Ivo J P
IJ
Rosenbloom
Arlan L
AL
Bandeira
Francisco
F
D002352:Carrier Proteins / Q000097:blood; D002648:Child; D018389:Codon, Nonsense / Q000235:genetics*; D013006:Growth Hormone / Q000097:blood; D006720:Homozygote; D006801:Humans; D007334:Insulin-Like Growth Factor I / Q000032:analysis; D046150:Laron Syndrome / Q000097:blood / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA
D002352:Carrier Proteins; D018389:Codon, Nonsense; D008565:Membrane Proteins; C405010:delta-hGHR; D007334:Insulin-Like Growth Factor I; D013006:Growth Hormone; C051815:somatotropin-binding protein