Growth hormone receptor gene mutations in two Italian patients with Laron Syndrome

L. Fassone, G. Corneli, S. Bellone, C. Camacho-Hübner, G. Aimaretti, M. Cappa, G. Ubertini, Gianni Bona

Research output: Contribution to journalArticle

Abstract

Laron Syndrome (LS) represents a condition characterized by GH insensitivity caused by molecular defects in the GH receptor (GHR) gene or in the post-receptor signalling pathway. We report the molecular characterization of two unrelated Italian girls from Sicily diagnosed with LS. The DNA sequencing of the GHR gene revealed the presence of different nonsense mutations, occurring in the same background haplotype. The molecular defects occurred in the extracellular domain of the GHR leading to a premature termination signal and to a truncated non-functional receptor. In one patient, a homozygous G to T transversion, in exon 6, led to the mutation GAA to TAA at codon 180 (E180X), while in the second patient a homozygous C to T transition in exon 7 was detected, causing the CGA to TAA substitution at codon 217 (R217X). Both probands presented the polymorphisms Gly168Gly and 11-e544Leu in a homozygous state in exons 6 and 10, respectively. The E18OX represents a novel defect of the GHR gene, while the R217X mutation6 has been previously reported in several patients from different ethnic backgrounds but all from countries locate n the Mediterranean and Middle Eastern region.

Original languageEnglish
Pages (from-to)417-420
Number of pages4
JournalJournal of Endocrinological Investigation
Volume30
Issue number5
Publication statusPublished - May 2007

Keywords

  • GHR
  • Laron Syndrome
  • Nonsense mutation

ASJC Scopus subject areas

  • Endocrinology

Fingerprint Dive into the research topics of 'Growth hormone receptor gene mutations in two Italian patients with Laron Syndrome'. Together they form a unique fingerprint.

  • Cite this

    Fassone, L., Corneli, G., Bellone, S., Camacho-Hübner, C., Aimaretti, G., Cappa, M., Ubertini, G., & Bona, G. (2007). Growth hormone receptor gene mutations in two Italian patients with Laron Syndrome. Journal of Endocrinological Investigation, 30(5), 417-420.