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

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

Content Provider	Semantic Scholar
Author	Cérino, Mathieu Gorokhova, Svetlana Laforêt, Pascal Yaou, Rabah Ben Salort-Campana, Emmanuelle Pouget, Jean Maurice Attarian, Shahram Eymard, Beatrice Deleuze, Joseph-P. F. Boland, Anne Béhin, Anthony Stojkovic, T. A. N. Bonne, Gisèle Lévy, Nicolas Bartoli, Marc Krahn, Martin
Copyright Year	2017
Abstract	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. METHODS Twenty patients with hIBM but undiagnosed by targeted GNE sequencing were analyzed by WES before data filtering on 306 genes associated with neuromuscular disorders. RESULTS Seven 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 Next-generation sequencing 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. Muscle Nerve 56: 993-997, 2017.
Starting Page	993
Ending Page	997
Page Count	5
File Format	PDF HTM / HTML
Alternate Webpage(s)	http://www.ibmmyositis.com/Cerino_et_al-2017-Muscle_&_Nerve.pdf
PubMed reference number	28256728v1
Alternate Webpage(s)	https://doi.org/10.1002/mus.25638
DOI	10.1002/mus.25638
Journal	Muscle & nerve
Volume Number	56
Issue Number	5
Language	English
Access Restriction	Open
Subject Keyword	Abducens Nerve Diseases Biopolymer Sequencing Carotid Body Paraganglioma GNE gene Genetic Heterogeneity Hereditary Diseases Inclusion Bodies Mutation NONAKA MYOPATHY Nerve Tissue Neuromuscular Diseases Patients Viral sequencing:Prid:Pt:Ser:Nom:Sequencing Whole Exome Sequencing
Content Type	Text
Resource Type	Article

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