Cerino M, Gorokhova S, Laforet P, Ben Yaou R, Salort-Campana E, Pouget J, Attarian S, Eymard B, Deleuze J.-F, Boland A, Behin A, Stojkovic T, Bonne G, Levy N, Bartoli M. and Krahn, M.
Muscle & Nerve,
INTRODUCTION: Hereditary inclusion body myopathy (hIBM) refers to a group of clinically and genetically heterogeneous diseases. The overlapping histochemical features of hIBM with other genetic disorders lead to low diagnostic rates with targeted single-gene sequencing. This is true for the most prevalent form of hIBM, GNEpathy. Thus, we used whole exome sequencing (WES) to evaluate whether a cohort of clinically suspected GNEpathy patients undiagnosed by targeted GNE analysis could be genetically characterized.
METHODS: 20 patients with hIBM but undiagnosed by targeted GNE sequencing were analyzed using WES before data filtering on 306 genes associated with neuromuscular disorders.
RESULTS: 7 patients out of 20 were found to have disease-causing mutations in genes associated with hIBM, or genes allowing for hIBM in the differential diagnosis, or associated with unexpected diagnosis.
DISCUSSION: NGS is an efficient strategy in the context of hIBM, resulting in a molecular diagnosis for 35% of the patients initially undiagnosed by targeted GNE analysis. This article is protected by copyright. All rights reserved.