Identification of a novel mutation in the human growth hormone receptor gene (GHR) in a patient with Laron syndrome
Gennero, Isabelle; Edouard, Thomas; Rashad, Mona; Bieth, Eric; Conte-Aurio, Françoise; Marin, Françoise; Tauber, Maithé; Salles, Jean Pierre; mohamed, elkholy;
Abstract
Deletions and mutations in the growth hormone receptor (GHR) gene are the underlying etiology of Laron syndrome (LS) or growth hormone (GH) insensitivity syndrome (GHIS), an autosomal recessive disease. Most patients are distributed in or originate from Mediterranean and Middle-Eastern countries. Sixty mutations have been described so far. We report a novel mutation in the GHR gene in a patient with LS. Genomic DNA sequencing of exon 5 revealed a TT insertion at nucleotide 422 after codon 122. The insertion resulted in a frameshift introducing a premature termination codon that led to a truncated receptor. We present clinical, biochemical and molecular evidence of LS as the result of this homozygous insertion.
Other data
Title | Identification of a novel mutation in the human growth hormone receptor gene (GHR) in a patient with Laron syndrome | Authors | Gennero, Isabelle; Edouard, Thomas; Rashad, Mona; Bieth, Eric; Conte-Aurio, Françoise; Marin, Françoise; Tauber, Maithé; Salles, Jean Pierre; mohamed, elkholy | Keywords | GHR gene | Growth hormone insensitivity syndrome | Growth hormone recetor | Insertion | Laron syndrome | Mutation | Issue Date | Jul-2007 | Journal | Journal of pediatric endocrinology & metabolism : JPEM | ISSN | 0334-018X | DOI | 10.1515/jpem.2007.20.7.825 | PubMed ID | 17849745 | Scopus ID | 2-s2.0-34548253851 |
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