Searchable abstracts of presentations at key conferences in endocrinology

ea0020p534 | Growth and Developmental Endocrinology | ECE2009

Characterization of growth hormone (GH) mutants R77C and D112G found in patients with retarded growth

Junnila Riia , Braig Friederike , Piilonen Katri , Strasburger Christian , Wu Zida

Introduction: Two heterozygous missense mutations R77C and D112G have been identified in GH-1 gene of patients with short stature by Takahashi et al. These patients had high serum immunoreactive GH concentrations but low IGF-1 concentrations, indicating bioinactivity of their GH. Separation of GH in patientsÂ’ serum by isoelectric focusing revealed the coexistence of mutant and wild type (wt) GH. In order to understand the molecular mechanism of the isolated GH defi...