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 µg/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.

Bibliographic Details

Main Authors:	Diniz,Erik Trovão, Jorge,Alexander A. L., Arnhold,Ivo J. P., Rosenbloom,Arlan L., Bandeira,Francisco
Format:	Digital revista
Language:	English
Published:	Sociedade Brasileira de Endocrinologia e Metabologia 2008
Online Access:	http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302008000800010
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