Increasing knowledge in <i>IGF1R</i> defects: lessons from 35 new patients

Abstract

We report eight new pathogenic variants of <i>IGF1R</i> and an original case with a homozygous SNV. We found the recently proposed clinical score to be accurate for the diagnosis of <i>IGF1R</i> defects with a sensitivity of 95.2%. We developed an efficient functional test to assess the pathogenicity of SNVs, which is useful, especially for VUS.