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Research ArticleOriginal Article
Open Access

Novel duplication mutation of the DYSF gene in a Pakistani family with Miyoshi Myopathy

Muhammad I. Ullah, Arsalan Ahmad, Milena Žarković, Syed S. Shah, Abdul Nasir, Saqib Mahmood, Wasim Ahmad, Christian A. Hübner and Muhammad J. Hassan
Saudi Medical Journal December 2017, 38 (12) 1190-1195; DOI: https://doi.org/10.15537/smj.2017.12.20989
Muhammad I. Ullah
From the Department of Biochemistry (Ullah, Ahmad W), Faculty of Biological Sciences, Quaid-i-Azam University, the Division of Neurology (Ahmad A), Shifa International Hospital, Section of Forensic Medicine (Shah), Shifa College of Medicine, Shifa Tameer-e-Millat University, the Department of Healthcare Biotechnology (Hassan), Atta-ur-Rahman School of Applied Biosciences, National University of Sciences & Technology, Islamabad, the Department of Biochemistry (Ullah), University of Health Sciences, the Department of Human Genetics and Molecular Biology (Mahmood), University of Health Sciences, Lahore, the Department of Biochemistry (Nasir), Abdul Wali Khan University Mardan, Mardan, Pakistan, and the Institute of Human Genetics (Žarković), University of Jena, Jena, Germany
M.Phil, PhD
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Arsalan Ahmad
From the Department of Biochemistry (Ullah, Ahmad W), Faculty of Biological Sciences, Quaid-i-Azam University, the Division of Neurology (Ahmad A), Shifa International Hospital, Section of Forensic Medicine (Shah), Shifa College of Medicine, Shifa Tameer-e-Millat University, the Department of Healthcare Biotechnology (Hassan), Atta-ur-Rahman School of Applied Biosciences, National University of Sciences & Technology, Islamabad, the Department of Biochemistry (Ullah), University of Health Sciences, the Department of Human Genetics and Molecular Biology (Mahmood), University of Health Sciences, Lahore, the Department of Biochemistry (Nasir), Abdul Wali Khan University Mardan, Mardan, Pakistan, and the Institute of Human Genetics (Žarković), University of Jena, Jena, Germany
MBBS, MD
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Milena Žarković
From the Department of Biochemistry (Ullah, Ahmad W), Faculty of Biological Sciences, Quaid-i-Azam University, the Division of Neurology (Ahmad A), Shifa International Hospital, Section of Forensic Medicine (Shah), Shifa College of Medicine, Shifa Tameer-e-Millat University, the Department of Healthcare Biotechnology (Hassan), Atta-ur-Rahman School of Applied Biosciences, National University of Sciences & Technology, Islamabad, the Department of Biochemistry (Ullah), University of Health Sciences, the Department of Human Genetics and Molecular Biology (Mahmood), University of Health Sciences, Lahore, the Department of Biochemistry (Nasir), Abdul Wali Khan University Mardan, Mardan, Pakistan, and the Institute of Human Genetics (Žarković), University of Jena, Jena, Germany
MS
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Syed S. Shah
From the Department of Biochemistry (Ullah, Ahmad W), Faculty of Biological Sciences, Quaid-i-Azam University, the Division of Neurology (Ahmad A), Shifa International Hospital, Section of Forensic Medicine (Shah), Shifa College of Medicine, Shifa Tameer-e-Millat University, the Department of Healthcare Biotechnology (Hassan), Atta-ur-Rahman School of Applied Biosciences, National University of Sciences & Technology, Islamabad, the Department of Biochemistry (Ullah), University of Health Sciences, the Department of Human Genetics and Molecular Biology (Mahmood), University of Health Sciences, Lahore, the Department of Biochemistry (Nasir), Abdul Wali Khan University Mardan, Mardan, Pakistan, and the Institute of Human Genetics (Žarković), University of Jena, Jena, Germany
MBBS, Ph.D
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Abdul Nasir
From the Department of Biochemistry (Ullah, Ahmad W), Faculty of Biological Sciences, Quaid-i-Azam University, the Division of Neurology (Ahmad A), Shifa International Hospital, Section of Forensic Medicine (Shah), Shifa College of Medicine, Shifa Tameer-e-Millat University, the Department of Healthcare Biotechnology (Hassan), Atta-ur-Rahman School of Applied Biosciences, National University of Sciences & Technology, Islamabad, the Department of Biochemistry (Ullah), University of Health Sciences, the Department of Human Genetics and Molecular Biology (Mahmood), University of Health Sciences, Lahore, the Department of Biochemistry (Nasir), Abdul Wali Khan University Mardan, Mardan, Pakistan, and the Institute of Human Genetics (Žarković), University of Jena, Jena, Germany
MSc, MPhil
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Saqib Mahmood
From the Department of Biochemistry (Ullah, Ahmad W), Faculty of Biological Sciences, Quaid-i-Azam University, the Division of Neurology (Ahmad A), Shifa International Hospital, Section of Forensic Medicine (Shah), Shifa College of Medicine, Shifa Tameer-e-Millat University, the Department of Healthcare Biotechnology (Hassan), Atta-ur-Rahman School of Applied Biosciences, National University of Sciences & Technology, Islamabad, the Department of Biochemistry (Ullah), University of Health Sciences, the Department of Human Genetics and Molecular Biology (Mahmood), University of Health Sciences, Lahore, the Department of Biochemistry (Nasir), Abdul Wali Khan University Mardan, Mardan, Pakistan, and the Institute of Human Genetics (Žarković), University of Jena, Jena, Germany
MBBS, PhD
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Wasim Ahmad
From the Department of Biochemistry (Ullah, Ahmad W), Faculty of Biological Sciences, Quaid-i-Azam University, the Division of Neurology (Ahmad A), Shifa International Hospital, Section of Forensic Medicine (Shah), Shifa College of Medicine, Shifa Tameer-e-Millat University, the Department of Healthcare Biotechnology (Hassan), Atta-ur-Rahman School of Applied Biosciences, National University of Sciences & Technology, Islamabad, the Department of Biochemistry (Ullah), University of Health Sciences, the Department of Human Genetics and Molecular Biology (Mahmood), University of Health Sciences, Lahore, the Department of Biochemistry (Nasir), Abdul Wali Khan University Mardan, Mardan, Pakistan, and the Institute of Human Genetics (Žarković), University of Jena, Jena, Germany
M.Phil, PhD
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Christian A. Hübner
From the Department of Biochemistry (Ullah, Ahmad W), Faculty of Biological Sciences, Quaid-i-Azam University, the Division of Neurology (Ahmad A), Shifa International Hospital, Section of Forensic Medicine (Shah), Shifa College of Medicine, Shifa Tameer-e-Millat University, the Department of Healthcare Biotechnology (Hassan), Atta-ur-Rahman School of Applied Biosciences, National University of Sciences & Technology, Islamabad, the Department of Biochemistry (Ullah), University of Health Sciences, the Department of Human Genetics and Molecular Biology (Mahmood), University of Health Sciences, Lahore, the Department of Biochemistry (Nasir), Abdul Wali Khan University Mardan, Mardan, Pakistan, and the Institute of Human Genetics (Žarković), University of Jena, Jena, Germany
MD
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Muhammad J. Hassan
From the Department of Biochemistry (Ullah, Ahmad W), Faculty of Biological Sciences, Quaid-i-Azam University, the Division of Neurology (Ahmad A), Shifa International Hospital, Section of Forensic Medicine (Shah), Shifa College of Medicine, Shifa Tameer-e-Millat University, the Department of Healthcare Biotechnology (Hassan), Atta-ur-Rahman School of Applied Biosciences, National University of Sciences & Technology, Islamabad, the Department of Biochemistry (Ullah), University of Health Sciences, the Department of Human Genetics and Molecular Biology (Mahmood), University of Health Sciences, Lahore, the Department of Biochemistry (Nasir), Abdul Wali Khan University Mardan, Mardan, Pakistan, and the Institute of Human Genetics (Žarković), University of Jena, Jena, Germany
M.Phil, PhD
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  • For correspondence: [email protected]
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References

  1. ↵
    1. Patel NJ,
    2. Van Dyke KW,
    3. Espinoza LR
    (2017) Limb-girdle muscular dystrophy 2B and Miyoshi presentations of dysferlinopathy. Am J Med Sci 353:484–491.
    OpenUrl
  2. ↵
    1. Shyma MM,
    2. Roopchand PS,
    3. Ram KM,
    4. Shaji CV
    (2015) Calf heads on a trophy sign: Miyoshi myopathy. J Neurosci Rural Pract 6:428–430.
    OpenUrl
  3. ↵
    1. Fanin M,
    2. Angelini C
    (2016) Progress and challenges in diagnosis of dysferlinopathy. Muscle Nerve 54:821–835.
    OpenUrl
  4. ↵
    1. Takahashi T,
    2. Aoki M,
    3. Suzuki N,
    4. Tateyama M,
    5. Yaginuma C,
    6. Sato H,
    7. et al.
    (2013) Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B. J Neurol Neurosurg Psychiatry 84:433–440.
    OpenUrlAbstract/FREE Full Text
  5. ↵
    1. Harris E,
    2. Bladen CL,
    3. Mayhew A,
    4. James M,
    5. Bettinson K,
    6. Moore U,
    7. et al.
    (2016) The Clinical Outcome Study for dysferlinopathy: An international multicenter study. Neurol Genet 2:e89.
    OpenUrlAbstract/FREE Full Text
  6. ↵
    1. Kobayashi K,
    2. Izawa T,
    3. Kuwamura M,
    4. Yamate J
    (2012) Dysferlin and animal models for dysferlinopathy. J Toxicol Pathol 25:135–147.
    OpenUrlCrossRefPubMed
  7. ↵
    1. Nilsson MI,
    2. Laureano ML,
    3. Saeed M,
    4. Tarnopolsky MA
    (2013) Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/Miyoshi Myopathy necessitates mutational screen for diagnosis. Muscle Nerve 47:740–747.
    OpenUrlPubMed
  8. ↵
    1. Krahn M,
    2. Béroud C,
    3. Labelle V,
    4. Nguyen K,
    5. Bernard R,
    6. Bassez G,
    7. et al.
    (2009) Analysis of the DYSF mutational spectrum in a large cohort of patients. Hum Mutat 30:E345–E375.
    OpenUrlCrossRefPubMedWeb of Science
    1. Zhao Z,
    2. Hu J,
    3. Sakiyama Y,
    4. Okamoto Y,
    5. Higuchi I,
    6. Li N,
    7. Shen H,
    8. Takashima H
    (2013) DYSF mutation analysis in a group of Chinese patients with dysferlinopathy. Clin Neurol Neurosurg 115:1234–1237.
    OpenUrl
    1. Park HJ,
    2. Hong JM,
    3. Suh GI,
    4. Shin HY,
    5. Kim SM,
    6. Sunwoo IN,
    7. et al.
    (2012) Heterogeneous characteristics of Korean patients with dysferlinopathy. J Korean Med Sci 27:423–429.
    OpenUrlPubMed
    1. Xi J,
    2. Blandin G,
    3. Lu J,
    4. Luo S,
    5. Zhu W,
    6. Béroud C,
    7. et al.
    (2014) Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy. Neurol India 62:635–639.
    OpenUrlPubMed
  9. ↵
    1. Xiong HY,
    2. >Alipanahi B,
    3. Lee LJ,
    4. Bretschneider H,
    5. Merico D,
    6. Yuen RK,
    7. et al.
    (2015) RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science 347:1254806.
    OpenUrlAbstract/FREE Full Text
  10. ↵
    1. Nelson AC,
    2. Bower M,
    3. Baughn LB,
    4. Henzler C,
    5. Onsongo G,
    6. Getiria Silverstein KAT,
    7. et al.
    (2015) Criteria for clinical reporting of variants from a broad target capture NGS assay without sanger verification. JSM Biomar 2:1005.
    OpenUrl
  11. ↵
    1. Ullah MI,
    2. Ahmad A,
    3. Raza SI,
    4. Amar A,
    5. Ali A,
    6. Bhatti A,
    7. et al.
    (2015) In silico analysis of SIGMAR1 variant (rs4879809) segregating in a consanguineous Pakistani family showing amyotrophic lateral sclerosis without frontotemporal lobar dementia. Neurogenetics 16:299–306.
    OpenUrlCrossRefPubMed
  12. ↵
    1. Zhang Y
    (2008) I-TASSER server for protein 3D structure prediction. BMC Bioinformatics 9:40.
    OpenUrlCrossRefPubMed
    1. Takahashi T,
    2. Aoki M,
    3. Tateyama M,
    4. Kondo E,
    5. Mizuno T,
    6. Onodera Y,
    7. et al.
    (2003) Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype. Neurology 60:1799–1804.
    OpenUrlCrossRefPubMed
    1. Cho HJ,
    2. Sung DH,
    3. Kim EJ,
    4. Yoon CH,
    5. Ki CS,
    6. et al.
    (2006) Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene. J Korean Med Sci 21:724–727.
    OpenUrlPubMed
    1. Mendell JR,
    2. Shilling C,
    3. Leslie ND,
    4. Flanigan KM,
    5. al-Dahhak R,
    6. Gastier-Foster J,
    7. et al.
    (2012) Evidence-based path to newborn screening for Duchenne muscular dystrophy. Ann Neurol 71:304–313.
    OpenUrlCrossRefPubMed
    1. Linssen WH,
    2. de Voogt WG,
    3. Krahn M,
    4. Bernard R,
    5. Levy N,
    6. Wokke JH,
    7. et al.
    (2013) Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy. Eur J Neurol 20:968–974.
    OpenUrl
  13. ↵
    1. Bashir R,
    2. Britton S,
    3. Strachan T,
    4. Keers S,
    5. Vafiadaki E,
    6. Lako M,
    7. et al.
    (1998) A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet 20:37–42.
    OpenUrlCrossRefPubMedWeb of Science
  14. ↵
    1. Linssen WH,
    2. Notermans NC,
    3. Van der Graaf Y,
    4. et al.
    (1997) Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients. Brain 20:37–42.
    OpenUrl
  15. ↵
    1. Fanin M,
    2. Angelini C
    (2016) Progress and challenges in diagnosis of dysferlinopathy. Muscle Nerve 54:821–835.
    OpenUrl
  16. ↵
    1. Hofhuis J,
    2. Bersch K,
    3. Büssenschütt R,
    4. Drzymalski M,
    5. Liebetanz D,
    6. Nikolaev VO,
    7. Wagner S,
    8. Maier LS,
    9. Gärtner J,
    10. Klinge L,
    11. Thoms S
    (2017) Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy. J Cell Sci 130:841–852.
    OpenUrlAbstract/FREE Full Text
  17. ↵
    1. Lennon NJ,
    2. Kho A,
    3. Bacskai BJ,
    4. Perlmutter SL,
    5. Hyman BT,
    6. Brown RH Jr.,
    7. et al.
    (2003) Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing. J Biol Chem 278:50466–50473.
    OpenUrlAbstract/FREE Full Text
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Novel duplication mutation of the DYSF gene in a Pakistani family with Miyoshi Myopathy
Muhammad I. Ullah, Arsalan Ahmad, Milena Žarković, Syed S. Shah, Abdul Nasir, Saqib Mahmood, Wasim Ahmad, Christian A. Hübner, Muhammad J. Hassan
Saudi Medical Journal Dec 2017, 38 (12) 1190-1195; DOI: 10.15537/smj.2017.12.20989

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Novel duplication mutation of the DYSF gene in a Pakistani family with Miyoshi Myopathy
Muhammad I. Ullah, Arsalan Ahmad, Milena Žarković, Syed S. Shah, Abdul Nasir, Saqib Mahmood, Wasim Ahmad, Christian A. Hübner, Muhammad J. Hassan
Saudi Medical Journal Dec 2017, 38 (12) 1190-1195; DOI: 10.15537/smj.2017.12.20989
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