Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing

Mathieu Cerino (1, 2) , Svetlana Gorokhova (1) , Pascal Laforet (3) , Rabah Ben Yaou (4) , Emmanuelle Salort-Campana (1, 5) , Jean Pouget (1, 5) , Shahram Attarian (1, 5) , Bruno Eymard (3) , Jean-François Deleuze (6) , Anne Boland (6) , Anthony Behin (3) , Tanya Stojkovic (3) , Gisele Bonne (4) , Nicolas Levy (1, 2) , Marc Bartoli (1, 2) , Martin Krahn (1, 2)

1 GMGF - Génétique Médicale et Génomique Fonctionnelle
2 Département de génétique médicale [Hôpital de la Timone - APHM]
3 Institut de Myologie
4 Centre de recherche en Myologie – U974 SU-INSERM
5 Centre de référence des maladies neuromusculaires et de la SLA
6 IG - Institut de Génomique d'Evry

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. Therefore, we used whole‐exome sequencing (WES) to determine whether a cohort of clinically suspected GNEpathy patients undiagnosed by targeted GNE analysis could be genetically characterized.

Mots clés: exome; GNE; NGS; myopathy; hIBM; diagnosis

Domaines: Génétique humaine

Mathieu Cerino, Svetlana Gorokhova, Pascal Laforet, Rabah Ben Yaou, Emmanuelle Salort-Campana, et al.. Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing. Muscle & Nerve, 2017, 56, pp.993-997. ⟨10.1002/mus.25638⟩. ⟨hal-01741741⟩