[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.

CONCLUSION:

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: Erik Trovão Diniz, Alexander A L Jorge, Ivo J P Arnhold, Arlan L Rosenbloom, Francisco Bandeira
• Journal: Arquivos brasileiros de endocrinologia e metabologia (Arq Bras Endocrinol Metabol) Vol. 52 Issue 8 Pg. 1264-71 (Nov 2008) ISSN: 1677-9487 [Electronic] Brazil
• Vernacular Title: Nova mutação nonsense (p.Y113X) no gene do receptor do hormônio do crescimento em um paciente brasileiro com síndrome de Laron.
• PMID: 19169479 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Carrier Proteins
• Codon, Nonsense
• Membrane Proteins
• delta-hGHR
• Insulin-Like Growth Factor I
• Growth Hormone
• somatotropin-binding protein

Topics

• Carrier Proteins (blood)
• Child
• Codon, Nonsense (genetics)
• Growth Hormone (blood)
• Homozygote
• Humans
• Insulin-Like Growth Factor I (analysis)
• Laron Syndrome (blood, genetics)
• Male
• Membrane Proteins (genetics)
• Sequence Analysis, DNA