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February 2018; 4 (1) ArticleOpen Access

Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders

Gloria T. Haskell, Michael C. Adams, Zheng Fan, Krunal Amin, Roberto J. Guzman Badillo, Linran Zhou, Christopher Bizon, Nizar Chahin, Robert S. Greenwood, Laura V. Milko, Yael Shiloh-Malawsky, Kristy R. Crooks, Natasha Strande, Michael Tennison, Christian R. Tilley, Alicia Brandt, Kirk C. Wilhelmsen, Karen Weck, James P. Evans, Jonathan S. Berg
First published February 1, 2018, DOI: https://doi.org/10.1212/NXG.0000000000000212
Gloria T. Haskell
From the Department of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
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Michael C. Adams
From the Department of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
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Zheng Fan
From the Department of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
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Krunal Amin
From the Department of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
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Roberto J. Guzman Badillo
From the Department of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
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Linran Zhou
From the Department of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
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Christopher Bizon
From the Department of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
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Nizar Chahin
From the Department of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
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Robert S. Greenwood
From the Department of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
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Laura V. Milko
From the Department of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
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Yael Shiloh-Malawsky
From the Department of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
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Kristy R. Crooks
From the Department of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
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Natasha Strande
From the Department of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
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Michael Tennison
From the Department of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
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Christian R. Tilley
From the Department of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
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Alicia Brandt
From the Department of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
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Kirk C. Wilhelmsen
From the Department of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
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Karen Weck
From the Department of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
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James P. Evans
From the Department of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
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Jonathan S. Berg
From the Department of Pathology (G.T.H.), Duke University, Durham, NC; The Ohio State University Wexner Medical Center (M.C.A.), Columbus, OH; Department of Neurology (Z.F., R.S.G., Y.S.-M., M.T., K.C.W.), Department of Genetics (K.A., R.J.G.B., L.Z., L.V.M., C.R.T., A.B., K.C.W., K.W., J.P.E., J.S.B.), Lineberger Comprehensive Cancer Center (J.P.E., J.S.B.), and Department of Pathology and Lab Medicine (N.S., K.W.), University of North Carolina at Chapel Hill; Renaissance Computing Institute (C.B., K.C.W.), Chapel Hill, NC; Oregon Health and Science University (N.C.), Portland; and Department of Pathology (K.R.C.), University of Colorado, Denver.
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Citation
Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders
Gloria T. Haskell, Michael C. Adams, Zheng Fan, Krunal Amin, Roberto J. Guzman Badillo, Linran Zhou, Christopher Bizon, Nizar Chahin, Robert S. Greenwood, Laura V. Milko, Yael Shiloh-Malawsky, Kristy R. Crooks, Natasha Strande, Michael Tennison, Christian R. Tilley, Alicia Brandt, Kirk C. Wilhelmsen, Karen Weck, James P. Evans, Jonathan S. Berg
Neurol Genet Feb 2018, 4 (1) e212; DOI: 10.1212/NXG.0000000000000212

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Abstract

Objective To evaluate the diagnostic yield and workflow of genome-scale sequencing in patients with neuromuscular disorders (NMDs).

Methods We performed exome sequencing in 93 undiagnosed patients with various NMDs for whom a molecular diagnosis was not yet established. Variants on both targeted and broad diagnostic gene lists were identified. Prior diagnostic tests were extracted from the patient's medical record to evaluate the use of exome sequencing in the context of their prior diagnostic workup.

Results The overall diagnostic yield of exome sequencing in our cohort was 12.9%, with one or more pathogenic or likely pathogenic variants identified in a causative gene associated with the patient's disorder. Targeted gene lists had the same diagnostic yield as a broad NMD gene list in patients with clear neuropathy or myopathy phenotypes, but evaluation of a broader set of disease genes was needed for patients with complex NMD phenotypes. Most patients with NMD had undergone prior testing, but only 10/16 (63%) of these procedures, such as muscle biopsy, were informative in pointing to a final molecular diagnosis.

Conclusions Genome-scale sequencing or analysis of a panel of relevant genes used early in the evaluation of patients with NMDs can provide or clarify a diagnosis and minimize invasive testing in many cases.

Glossary

NCGENES=
North Carolina Clinical Genomic Evaluation by Next-generation Exome Sequencing;
NMD=
Neuromuscular disorder;
UNC=
University of North Carolina;
VUS=
variants of uncertain significance;
WES=
whole-exome sequencing

Footnotes

  • ↵* These authors contributed equally to this work.

  • Funding information and disclosures are provided at the end of the article. Full disclosure form information provided by the authors is available with the full text of this article at Neurology.org/NG.

  • The Article Processing Charge was funded by the authors.

  • Received July 14, 2017.
  • Accepted in final form November 12, 2017.
  • Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.

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