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The Indian Journal of Pediatrics

, Volume 85, Issue 4, pp 309–310 | Cite as

Next Generation Sequencing in Diagnosis of MLPA Negative Cases Presenting as Duchenne/ Becker Muscular Dystrophies

  • Bharti Singh
  • Kausik Mandal
  • Meenakshi Lallar
  • Dhanya Lakshmi Narayanan
  • Shivani Mishra
  • Poonam Singh Gambhir
  • Shubha R. Phadke
Scientific Letter
  • 94 Downloads

To the Editor: Duchenne and Becker muscular dystrophies (dystrophinopathies) are common neuromuscular disorders affecting about 1 in 3500 live male births [1] and are characterized by proximal myopathy, resulting in difficulty in getting up from sitting position and climbing stairs with calf hypertrophy and positive Gower sign. Deletions and duplications of one or more exons of dystrophin gene account for approximately 60%–70% [85% in case of Becker Muscular Dystrophy (BMD)] and 5–10% of pathogenic variants respectively [2]. Multiplex ligation probe amplification (MLPA) is the most cost and labour-efficient method to detect deletions / duplication. If MLPA does not find any deletion/ duplication there is a possibility of single nucleotide variants (small deletions or insertions, single-base changes, and splice site changes) or there can be an alternative diagnosis. Common differential diagnosis are Limb girdle muscular dystrophy (LGMD), Emery Dreifuss muscular dystrophy (EDMD) and...

Notes

Compliance with Ethical Standards

Conflict of Interest

None.

Source of Funding

None.

References

  1. 1.
    Grody WW, Deignan JL. Diagnostic molecular genetics. In: Rimoin D, Pyeritz R, Korf B, editors. Emery and Rimoin’s principles and practice of medical genetics. Chapter 23. 6th ed. San Diego: Elsevier Ltd; 2013. p. 1–31.Google Scholar
  2. 2.
    Takeshima Y, Yagi M, Okizuka Y, et al. Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center. J Hum Genet. 2010;55:379–88.CrossRefPubMedGoogle Scholar
  3. 3.
    Pegoraro E, Hoffman EP. Limb-Girdle Muscular Dystrophy Overview. GeneReviews. Initial Posting. 2000; Last Update: August 30, 2012. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1408/.
  4. 4.
    Kaplan JC, Hamroun D. Corrigendum to “the 2016 version of the gene table of monogenic neuromuscular disorders (nuclear genome)”: [neuromuscular disorders volume 25 (2015) 991-1020]. Neuromuscul Disord. 2016;26:330.CrossRefPubMedGoogle Scholar
  5. 5.
    Nigro V, Savarese M. Next-generation sequencing approaches for the diagnosis of skeletal muscle disorders. Curr Opin Neurol. 2016;29:621–7.CrossRefPubMedGoogle Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 2017

Authors and Affiliations

  1. 1.Department of Medical GeneticsSanjay Gandhi Post Graduate Institute of Medical SciencesLucknowIndia

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