title: [Novel nonsense mutation (p.Y113X) in the human growth hormone receptor gene in a Brazilian patient with Laron syndrome].
abstract: 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.
authors.affiliation: Hospital Agamenon Magalhães, Sistema Unico de Saúde, Universidade de Pernambuco, Recife, PE, Brasil. erik_td@hotmail.com
authors.forename: Erik Trovão
authors.initials: ET
authors.lastname: Diniz
authors.forename: Alexander A L
authors.initials: AA
authors.lastname: Jorge
authors.forename: Ivo J P
authors.initials: IJ
authors.lastname: Arnhold
authors.forename: Arlan L
authors.initials: AL
authors.lastname: Rosenbloom
authors.forename: Francisco
authors.initials: F
authors.lastname: Bandeira
mesh_terms: 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
chemical_list: 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