Growth hormone receptor gene mutations in two Italian patients with Laron Syndrome
| Autor: | G. Corneli, Marco Cappa, G. Bona, S. Bellone, Gianluca Aimaretti, L. Fassone, C. Camacho-Hübner, G. Ubertini |
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| Rok vydání: | 2007 |
| Předmět: |
Genetics
Mutation Endocrinology Diabetes and Metabolism Haplotype Nonsense mutation Growth hormone receptor Biology medicine.disease_cause medicine.disease Laron Syndrome Protein Structure Tertiary Exon Phenotype Endocrinology Italy Codon Nonsense Child Preschool medicine Laron syndrome Humans Female Carrier Proteins Child Transversion Gene |
| Zdroj: | Scopus-Elsevier |
| ISSN: | 1720-8386 0391-4097 |
| Popis: | 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 Ile544Leu in a homozygous state in exons 6 and 10, respectively. The E180X represents a novel defect of the GHR gene, while the R217X mutation has been previously reported in several patients from different ethnic backgrounds but all from countries located in the Mediterranean and Middle Eastern region. |
| Databáze: | OpenAIRE |
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