Novel Insulin-Like Growth Factor 1 Gene Mutation: Broadening of the Phenotype and Implications for Insulin Resistance.

We describe a novel IGF1 mutation leading to severe loss of circulating IGF1 immunoreactivity and bioactivity, In silico modelling predicts that the mutant IGF1 could interfere with IR signalling, providing a possible explanation for the severe insulin resistance observed in the patient. The absence of significant hearing and neurodevelopmental involvement in the present case is unusual and broadens the clinical spectrum of IGF1 mutations.