Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Oncology Letters
      • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Biomedical Reports
      • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • Information for Authors
    • Information for Reviewers
    • Information for Librarians
    • Information for Advertisers
    • Conferences
  • Language Editing
Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • For Authors
    • For Reviewers
    • For Librarians
    • For Advertisers
    • Conferences
  • Language Editing
Login Register Submit
  • This site uses cookies
  • You can change your cookie settings at any time by following the instructions in our Cookie Policy. To find out more, you may read our Privacy Policy.

    I agree
Search articles by DOI, keyword, author or affiliation
Search
Advanced Search
presentation
Experimental and Therapeutic Medicine
Join Editorial Board Propose a Special Issue
Print ISSN: 1792-0981 Online ISSN: 1792-1015
Journal Cover
September-2021 Volume 22 Issue 3

Full Size Image

Sign up for eToc alerts
Recommend to Library

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

Journal Cover
September-2021 Volume 22 Issue 3

Full Size Image

Sign up for eToc alerts
Recommend to Library

  • Article
  • Citations
    • Cite This Article
    • Download Citation
    • Create Citation Alert
    • Remove Citation Alert
    • Cited By
  • Similar Articles
    • Related Articles (in Spandidos Publications)
    • Similar Articles (Google Scholar)
    • Similar Articles (PubMed)
  • Download PDF
  • Download XML
  • View XML
Article Open Access

Molecular diagnosis of McArdle disease using whole-exome sequencing

  • Authors:
    • Ju-Hyung Kang
    • Jun-Hyung Park
    • Jin-Soon Park
    • Seong-Kyu Lee
    • Sunghoon Lee
    • Haing-Woon Baik
  • View Affiliations / Copyright

    Affiliations: Department of Pediatrics, School of Medicine, Eulji University, Daejeon 34824, Republic of Korea, Department of Biochemistry and Molecular Biology, School of Medicine, Eulji University, Daejeon 34824, Republic of Korea, Department of Research and Development Eone-Diagnomics Genome Center, Incheon 22014, Republic of Korea
    Copyright: © Kang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 1029
    |
    Published online on: July 18, 2021
       https://doi.org/10.3892/etm.2021.10461
  • Expand metrics +
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )
Cited By (CrossRef): 0 citations Loading Articles...

This article is mentioned in:



Abstract

Whole-exome sequencing (WES) analysis has been used recently as a diagnostic tool for finding molecular defects. In the present study, researchers attempted to analyze molecular defects through WES in a 13-year-old female patient who had not been diagnosed through a conventional genetic approach. DNA was extracted and subjected to WES analysis to identify the genetic defect. A total of 106,728 exons and splicing variants were selected, and synonymous single nucleotide variants (SNVs) and general single nucleotide polymorphisms (SNPs) were filtered out. Finally, nonsynonymous SNVs (c.C415T and c.C389T) of the PYGM gene were identified in nine compound heterozygous mutations. PYGM encodes myophosphorylase and degrades glycogen in the muscle to supply energy to muscle cells. The present study revealed that the patient's father had a c.C389T mutation and the mother had a c.C415T mutation, resulting in A130V and R139W missense mutations, respectively. To the best of our knowledge, the A130V variant in PYGM has not been reported in the common variant databases. All variations of the patient's family detected using WES were verified by Sanger sequencing. Because the patient had compound heterozygous mutations in the PYGM gene, the patient was presumed to exhibit markedly decreased muscle phosphorylase activity. To assess the function of myophosphorylase, an ischemic forearm exercise test was performed. The blood ammonia level sharply increased and the lactate level maintained a flat curve shape similar to the typical pattern of McArdle disease. Therefore, the diagnosis of the patient was confirmed to be McArdle disease, a glycogen storage disease. Through WES analysis, accurate and early diagnosis could be made in the present study. This report describes a novel compound heterozygous mutation of the PYGM gene in a Korean patient.
View Figures

Figure 1

Figure 2

Figure 3

Figure 4

View References

1 

Quinlivan R, Buckley J, James M, Twist A, Ball S, Duno M, Vissing J, Bruno C, Cassandrini D, Roberts M, et al: McArdle disease: A clinical review. J Neurol Neurosurg Psychiatry. 81:1182–1188. 2010.PubMed/NCBI View Article : Google Scholar

2 

Llavero F, Arrazola Sastre A, Luque Montoro M, Gálvez P, Lacerda HM, Parada LA and Zugaza JL: McArdle disease: New insights into its underlying molecular mechanisms. Int J Mol Sci. 20(5919)2019.PubMed/NCBI View Article : Google Scholar

3 

Lebo RV, Gorin F, Fletterick RJ, Kao FT, Cheung MC, Bruce BD and Kan YW: High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle's syndrome to chromosome 11. Science. 225:57–59. 1984.PubMed/NCBI View Article : Google Scholar

4 

Nogales-Gadea G, Santalla A, Brull A, de Luna N, Lucia A and Pinós T: The pathogenomics of McArdle disease - genes, enzymes, models, and therapeutic implications. J Inherit Metab Dis. 38:221–230. 2015.PubMed/NCBI View Article : Google Scholar

5 

Sugie H, Sugie Y, Ito M, Fukuda T, Nonaka I and Igarashi Y: Genetic analysis of Japanese patients with myophosphorylase deficiency (McArdle's disease): Single-codon deletion in exon 17 is the predominant mutation. Clin Chim Acta. 236:81–86. 1995.PubMed/NCBI View Article : Google Scholar

6 

Lucia A, Ruiz JR, Santalla A, Nogales-Gadea G, Rubio JC, García-Consuegra I, Cabello A, Pérez M, Teijeira S, Vieitez I, et al: Genotypic and phenotypic features of McArdle disease: Insights from the Spanish national registry. J Neurol Neurosurg Psychiatry. 83:322–328. 2012.PubMed/NCBI View Article : Google Scholar

7 

Santalla A, Nogales-Gadea G, Encinar AB, Vieitez I, González-Quintana A, Serrano-Lorenzo P, Consuegra IG, Asensio S, Ballester-Lopez A, Pintos-Morell G, et al: Genotypic and phenotypic features of all Spanish patients with McArdle disease: A 2016 update. BMC Genomics. 18 (Suppl 8)(819)2017.PubMed/NCBI View Article : Google Scholar

8 

García-Consuegra I, Rubio JC, Nogales-Gadea G, Bautista J, Jiménez S, Cabello A, Lucía A, Andreu AL, Arenas J and Martin MA: Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA. J Med Genet. 46:198–202. 2009.PubMed/NCBI View Article : Google Scholar

9 

Nogales-Gadea G, Brull A, Santalla A, Andreu AL, Arenas J, Martín MA, Lucia A, de Luna N and Pinós T: McArdle disease: Update of reported mutations and polymorphisms in the PYGM Gene. Hum Mutat. 36:669–678. 2015.PubMed/NCBI View Article : Google Scholar

10 

Aquaron R, Bergé-Lefranc JL, Pellissier JF, Montfort MF, Mayan M, Figarella-Branger D, Coquet M, Serratrice G and Pouget J: Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: Identification of 10 new mutations. Absence of genotype-phenotype correlation. Neuromuscul Disord. 17:235–241. 2007.PubMed/NCBI View Article : Google Scholar

11 

Burr ML, Roos JC and Ostör AJ: Metabolic myopathies: A guide and update for clinicians. Curr Opin Rheumatol. 20:639–647. 2008.PubMed/NCBI View Article : Google Scholar

12 

De Castro M, Johnston J and Biesecker L: Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data. Genet Med. 17:1002–1006. 2015.PubMed/NCBI View Article : Google Scholar

13 

Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, et al: Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 369:1502–1511. 2013.PubMed/NCBI View Article : Google Scholar

14 

Kazemi-Esfarjani P, Skomorowska E, Jensen TD, Haller RG and Vissing J: A nonischemic forearm exercise test for McArdle disease. Ann Neurol. 52:153–159. 2002.PubMed/NCBI View Article : Google Scholar

15 

Martín MA, Rubio JC, Wevers RA, Van Engelen BG, Steenbergen GC, Van Diggelen OP, De Visser M, De Die-Smulders C, Blázquez A, Andreu AL, et al: Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease. Ann Hum Genet. 68:17–22. 2004.PubMed/NCBI View Article : Google Scholar

16 

Tsujino S, Shanske S and DiMauro S: Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). N Engl J Med. 329:241–245. 1993.PubMed/NCBI View Article : Google Scholar

17 

Deschauer M, Morgenroth A, Joshi PR, Gläser D, Chinnery PF, Aasly J, Schreiber H, Knape M, Zierz S and Vorgerd M: Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations. J Neurol. 254:797–802. 2007.PubMed/NCBI View Article : Google Scholar

18 

Martín MA, Rubio JC, Buchbinder J, Fernández-Hojas R, del Hoyo P, Teijeira S, Gámez J, Navarro C, Fernández JM, Cabello A, et al: Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): A genotype-phenotype correlation study. Ann Neurol. 50:574–581. 2001.PubMed/NCBI

19 

Hogrel JY, van den Bogaart F, Ledoux I, Ollivier G, Petit F, Koujah N, Béhin A, Stojkovic T, Eymard B, Voermans N, et al: Diagnostic power of the non-ischaemic forearm exercise test in detecting glycogenosis type V. Eur J Neurol. 22:933–940. 2015.PubMed/NCBI View Article : Google Scholar

20 

de Luna N, Brull A, Lucia A, Santalla A, Garatachea N, Martí R, Andreu AL and Pinós T: PYGM expression analysis in white blood cells: A complementary tool for diagnosing McArdle disease? Neuromuscul Disord. 24:1079–1086. 2014.PubMed/NCBI View Article : Google Scholar

21 

Sinkeler SP, Daanen HA, Wevers RA, Oei TL, Joosten EM and Binkhorst RA: The relation between blood lactate and ammonia in ischemic handgrip exercise. Muscle Nerve. 8:523–527. 1985.PubMed/NCBI View Article : Google Scholar

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Kang J, Park J, Park J, Lee S, Lee S and Baik H: Molecular diagnosis of McArdle disease using whole-exome sequencing. Exp Ther Med 22: 1029, 2021.
APA
Kang, J., Park, J., Park, J., Lee, S., Lee, S., & Baik, H. (2021). Molecular diagnosis of McArdle disease using whole-exome sequencing. Experimental and Therapeutic Medicine, 22, 1029. https://doi.org/10.3892/etm.2021.10461
MLA
Kang, J., Park, J., Park, J., Lee, S., Lee, S., Baik, H."Molecular diagnosis of McArdle disease using whole-exome sequencing". Experimental and Therapeutic Medicine 22.3 (2021): 1029.
Chicago
Kang, J., Park, J., Park, J., Lee, S., Lee, S., Baik, H."Molecular diagnosis of McArdle disease using whole-exome sequencing". Experimental and Therapeutic Medicine 22, no. 3 (2021): 1029. https://doi.org/10.3892/etm.2021.10461
Copy and paste a formatted citation
x
Spandidos Publications style
Kang J, Park J, Park J, Lee S, Lee S and Baik H: Molecular diagnosis of McArdle disease using whole-exome sequencing. Exp Ther Med 22: 1029, 2021.
APA
Kang, J., Park, J., Park, J., Lee, S., Lee, S., & Baik, H. (2021). Molecular diagnosis of McArdle disease using whole-exome sequencing. Experimental and Therapeutic Medicine, 22, 1029. https://doi.org/10.3892/etm.2021.10461
MLA
Kang, J., Park, J., Park, J., Lee, S., Lee, S., Baik, H."Molecular diagnosis of McArdle disease using whole-exome sequencing". Experimental and Therapeutic Medicine 22.3 (2021): 1029.
Chicago
Kang, J., Park, J., Park, J., Lee, S., Lee, S., Baik, H."Molecular diagnosis of McArdle disease using whole-exome sequencing". Experimental and Therapeutic Medicine 22, no. 3 (2021): 1029. https://doi.org/10.3892/etm.2021.10461
Follow us
  • Twitter
  • LinkedIn
  • Facebook
About
  • Spandidos Publications
  • Careers
  • Cookie Policy
  • Privacy Policy
How can we help?
  • Help
  • Live Chat
  • Contact
  • Email to our Support Team