Increasing knowledge in IGF1R defects: lessons from 35 new patients.
Eloïse GiabicaniMarjolaine WillemsVirginie SteunouSandra Chantot-BastaraudNathalie ThibaudWalid Abi HabibSalah AzziBich LamLaurence BérardHélène Bony-TrifunovicCécile BrachetElise Brischoux-BoucherEmmanuelle CaldaguesRegis CoutantMarie-Laure CuvelierGeorges GelwaneIsabelle GuemasMuriel HouangBertrand IsidorClaire JeandelJames LespinasseCatherine Naud-SaudreauMonique Jesuran-PerelroizenLaurence PerrinJuliette PiardClaire SechterPierre-François SouchonCaroline StoreyDomitille ThomasYves Le BoucSylvie RossignolIrène NetchineFrédéric BrioudePublished in: Journal of medical genetics (2019)
We report eight new pathogenic variants of IGF1R and an original case with a homozygous SNV. We found the recently proposed clinical score to be accurate for the diagnosis of IGF1R 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.