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What is the ocular phenotype associated with a single exon 78 deletion in Duchenne muscular dystrophy?

Journal of Human Genetics volume 65, pages 715–716 (2020)Cite this article

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We have read with great interest the Brief Communication reporting for the first time a clinical and histopathological description related to a single exon 78 deletion in Duchenne muscular dystrophy (DMD) gene. The 13-year-old male patient suffered from myalgia after exertion, with persistent increase of serum creatine kinase. Muscle fibers morphology and architecture were minimally affected. Height and weight were above 70th percentile. Intellectual functions were normal [1].

In the discussion, the authors quoted a study about abnormal splicing of DMD exon 78 in dystrophic muscles in myotonic dystrophy type 1 (DM1). According to this study, during muscle development, the switch from embryonic to adult isoforms of dystrophin involved coordinated alternative splicing of two regions of the DMD gene: exons 71–74 and exon 78. Experimental abnormal splicing switch compromised muscle development, and muscle fiber maintenance.

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Authors and Affiliations

  1. Medical Affairs Department, The French Muscular Dystrophy, Association (AFM-Telethon), Evry, France

    Tuy Nga Brignol

  2. PhyMedExp, Université de Montpellier, INSERM, CNRS, Montpellier, France

    Dominique Mornet

  3. Departamento de Genética y Biología Molecular, Centro de Investigación y de Estudios Avanzados del IPN, Ciudad de, México, Mexico

    Cecilia Montañez

  4. Department of Experimental Psychology, Institute of Psychology, Universidade de São Paulo, Av. Prof. Mello Moraes 1721, Cidade Universitária, São Paulo, SP, CEP 05508-030, Brazil

    Dora Fix Ventura

  5. Paris-Saclay Institute of Neuroscience, UMR 9197, Université Paris Sud, CNRS, Université Paris Saclay, F-91405, Orsay, France

    Cyrille Vaillend

  6. Sorbonne Université, INSERM, CNRS, Institut de la Vision, 17 rue Moreau, F-75012, Paris, France

    Alvaro Rendón

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  1. Tuy Nga Brignol
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Correspondence to Tuy Nga Brignol.

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Brignol, T.N., Mornet, D., Montañez, C. et al. What is the ocular phenotype associated with a single exon 78 deletion in Duchenne muscular dystrophy?. J Hum Genet 65, 715–716 (2020). https://doi.org/10.1038/s10038-020-0755-5

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