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

被引：5

作者：

Cerino, Mathieu ^{[1
,2
]}

Gorokhova, Svetlana ^{[1
]}

Laforet, Pascal ^{[3
]}

Ben Yaou, Rabah ^{[3
,4
]}

Salort-Campana, Emmanuelle ^{[1
,5
]}

Pouget, Jean ^{[1
,5
]}

Attarian, Shahram ^{[1
,5
]}

Eymard, Bruno ^{[3
]}

Deleuze, Jean-Francois ^{[6
]}

Boland, Anne ^{[6
]}

Behin, Anthony ^{[3
]}

Stojkovic, Tanya ^{[3
]}

Bonne, Gisele ^{[4
]}

Levy, Nicolas ^{[1
,2
]}

Bartoli, Marc ^{[1
,2
]}

Krahn, Martin ^{[1
,2
]}

机构：

[1] Aix Marseille Univ, INSERM, UMR S910, GMGF,AMU,Fac Med Marseille, 4e Etage Aile Verte,27 Blvd Jean Moulin, F-13385 Marseille 05, France

[2] Hop Timone Enfants, AP HM, Dept Genet Med, Marseille, France

[3] GH Pitie Salpetriere, AP HP, Ctr Reference Maladies Neuro, Inst Myol, Paris, France

[4] Univ Paris 06, Sorbonne Univ, UPMC,GH Pitie Salpetriere, INSERM,CNRS,UMRS974,FRE3617,Ctr Res Myol,Inst Myo, Paris, France

[5] Hop La Timone, AP HM, Ctr Reference Maladies Neuromusculaires & SLA, Marseille, France

[6] CEA, Inst Genom, Ctr Natl Genotypage, Evry, France

来源：

MUSCLE & NERVE | 2017年 / 56卷 / 05期

关键词：

diagnosis; exome; GNE; hIBM; myopathy; NGS; AMYOTROPHIC-LATERAL-SCLEROSIS; NEUROMUSCULAR DISORDERS; DIAGNOSIS; DISEASE; TARDBP; DISCOVERY; DOMAIN; TITIN;

D O I：

10.1002/mus.25638

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

IntroductionHereditary 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. MethodsTwenty patients with hIBM but undiagnosed by targeted GNE sequencing were analyzed by WES before data filtering on 306 genes associated with neuromuscular disorders. ResultsSeven 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. DiscussionNext-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 Nerve56: 993-997, 2017

引用

页码：993 / 997

页数：5

共 29 条

[1] A method and server for predicting damaging missense mutations [J].

Adzhubei, Ivan A. ;

Schmidt, Steffen ;

Peshkin, Leonid ;

Ramensky, Vasily E. ;

Gerasimova, Anna ;

Bork, Peer ;

Kondrashov, Alexey S. ;

Sunyaev, Shamil R. .

NATURE METHODS, 2010, 7 (04) :248-249

[2]

Askanas Valerie, 1998, Current Opinion in Rheumatology, V10, P530, DOI 10.1097/00002281-199811000-00005

[3] Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies [J].

Bar, Harald ;

Goudeau, Bertrand ;

Walde, Sarah ;

Casteras-Simon, Monique ;

Mucke, Norbert ;

Shatunov, Alexey ;

Goldberg, Y. Paul ;

Clarke, Charles ;

Holton, Janice L. ;

Eymard, Bruno ;

Katus, Hugo A. ;

Fardeau, Michel ;

Goldfarb, Lev ;

Vicart, Patrick ;

Herrmann, Harald .

HUMAN MUTATION, 2007, 28 (04) :374-386

[4] FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project [J].

Beaulieu, Chandree L. ;

Majewski, Jacek ;

Schwartzentruber, Jeremy ;

Samuels, Mark E. ;

Femandez, Bridget A. ;

Bernier, Francois P. ;

Brudno, Michael ;

Knoppers, Bartha ;

Marcadier, Janet ;

Dyment, David ;

Adam, Shelin ;

Bulman, Dennis E. ;

Jones, Steve J. M. ;

Avard, Denise ;

Minh Thu Nguyen ;

Rousseau, Francois ;

Marshall, Christian ;

Wintle, Richard F. ;

Shen, Yaoqing ;

Scherer, Stephen W. ;

Friedman, Jan M. ;

Michaud, Jacques L. ;

Boycott, Kym M. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2014, 94 (06) :809-817

[5]

Cerino Mathieu, 2015, J Neuromuscul Dis, V2, P131

[6] TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis [J].

Conforti, F. L. ;

Sproviero, W. ;

Simone, I. L. ;

Mazzei, R. ;

Valentino, P. ;

Ungaro, C. ;

Magariello, A. ;

Patitucci, A. ;

La Bella, V. ;

Sprovieri, T. ;

Tedeschi, G. ;

Citrigno, L. ;

Gabriele, A. L. ;

Bono, F. ;

Monsurro, M. R. ;

Muglia, M. ;

Gambardella, A. ;

Quattrone, A. .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2011, 82 (05) :587-588

[7] A framework for variation discovery and genotyping using next-generation DNA sequencing data [J].

DePristo, Mark A. ;

Banks, Eric ;

Poplin, Ryan ;

Garimella, Kiran V. ;

Maguire, Jared R. ;

Hartl, Christopher ;

Philippakis, Anthony A. ;

del Angel, Guillermo ;

Rivas, Manuel A. ;

Hanna, Matt ;

McKenna, Aaron ;

Fennell, Tim J. ;

Kernytsky, Andrew M. ;

Sivachenko, Andrey Y. ;

Cibulskis, Kristian ;

Gabriel, Stacey B. ;

Altshuler, David ;

Daly, Mark J. .

NATURE GENETICS, 2011, 43 (05) :491-+

[8] Human Splicing Finder: an online bioinformatics tool to predict splicing signals [J].

Desmet, Francois-Olivier ;

Hamroun, Dalil ;

Lalande, Marine ;

Collod-Beroud, Gwenaelle ;

Claustres, Mireille ;

Beroud, Christophe .

NUCLEIC ACIDS RESEARCH, 2009, 37 (09)

[9] An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia [J].

Dias, Cristina ;

Sincan, Murat ;

Cherukuri, Praveen F. ;

Rupps, Rosemarie ;

Huang, Yan ;

Briemberg, Hannah ;

Selby, Kathryn ;

Mullikin, James C. ;

Markello, Thomas C. ;

Adams, David R. ;

Gahl, William A. ;

Boerkoel, Cornelius F. .

HUMAN MUTATION, 2012, 33 (04) :614-626

[10] The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy [J].

Eisenberg, I ;

Avidan, N ;

Potikha, T ;

Hochner, H ;

Chen, M ;

Olender, T ;

Barash, M ;

Shemesh, M ;

Sadeh, M ;

Grabov-Nardini, G ;

Shmilevich, I ;

Friedmann, A ;

Karpati, G ;

Bradley, WG ;

Baumbach, L ;

Lancet, D ;

Ben Asher, E ;

Beckmann, JS ;

Argov, Z ;

Mitrani-Rosenbaum, S .

NATURE GENETICS, 2001, 29 (01) :83-87

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