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Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era

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Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is a genetic neuromuscular disorder which mainly affects the muscles of the face, shoulder, and upper arms. FSHD is generally associated with the contraction of D4Z4 macrosatellite repeats on 4q35 chromosome or mutations in SMCHD1, which are responsible of the toxic expression of DUX4 in muscle tissue. Despite the recent application of NGS techniques in the clinical practice, the molecular diagnosis of FSHD is still performed with dated techniques such as Southern blotting. The diagnosis of FSHD requires therefore specific skills on both modern and less modern analytical protocols. Considering that clinical and molecular diagnosis of FSHD is challenging, it is not surprising that only few laboratories offer a comprehensive characterization of FSHD, which requires the education of professionals on traditional techniques even in the era of NGS. In conclusion, the study of FSHD provides an excellent example of using classical and modern molecular technologies which are equally necessary for the analysis of DNA repetitive traits associated with specific disorders.

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Funding

This work is funded by the Italian Ministry of Health (5X1000-2016 and 5x2017 MINSAL.3).

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Authors and Affiliations

  1. Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, via Ardeatina 354, 00142, Rome, Italy

    Stefania Zampatti, Luca Colantoni, Rosaria Maria Galota, Giulia Campoli, Giulia Pagliaroli, Stefania Carboni, Julia Mela, Cristina Peconi, Raffaella Cascella & Emiliano Giardina

  2. Department of Biomedicine and Prevention, Tor Vergata University, via Montpellier 1, 00133, Rome, Italy

    Claudia Strafella, Valerio Caputo & Emiliano Giardina

  3. IRCCS Neuromed, via Atinense, 18, 86077, Pozzilli, Italy

    Stefano Gambardella

  4. Department of Biomedical Sciences, Catholic University Our Lady of Good Counsel, Rruga Dritan Hoxha, 1000, Tirana, Albania

    Raffaella Cascella

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  1. Stefania Zampatti
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  2. Luca Colantoni
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Zampatti, S., Colantoni, L., Strafella, C. et al. Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era. Neurogenetics 20, 57–64 (2019). https://doi.org/10.1007/s10048-019-00575-4

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