Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines

Author:

Giardina Emiliano12ORCID,Camaño Pilar34ORCID,Burton‐Jones Sarah5ORCID,Ravenscroft Gina6ORCID,Henning Franclo7ORCID,Magdinier Frederique8ORCID,van der Stoep Nienke9ORCID,van der Vliet Patrick J.10ORCID,Bernard Rafaëlle811ORCID,Tomaselli Pedro J.12ORCID,Davis Mark R.13ORCID,Nishino Ichizo1415ORCID,Oflazer Piraye16ORCID,Race Valerie17ORCID,Vishnu Venugopalan Y.18ORCID,Williams Victoria19ORCID,Sobreira Cláudia F. R.12ORCID,van der Maarel Silvere M.10ORCID,Moore Steve A.20ORCID,Voermans Nicol C.21ORCID,Lemmers Richard J. L. F.10ORCID

Affiliation:

1. Genomic Medicine Laboratory UILDM IRCCS Fondazione Santa Lucia Rome Italy

2. Department of Biomedicine & Prevention Tor Vergata University of Rome Rome Italy

3. Molecular Diagnostics Platform Biogipuzkoa Health Research Institute, Hospital Universitario Donostia San Sebastián Spain

4. CIBERNED, CIBER, Spanish Ministry of Science & Innovation Carlos III Health Institute Madrid Spain

5. South West Genomics Laboratory Hub Southmead Hospital Bristol UK

6. Harry Perkins Institute of Medical Research University of Western Australia Nedlands Western Australia Australia

7. Division of Neurology, Department of Medicine, Faculty of Medicine and Health Sciences Stellenbosch University Cape Town South Africa

8. Aix Marseille Univ, INSERM, Marseille Medical Genetics Marseille France

9. Department of Clinical Genetics Leiden University Medical Center The Netherlands

10. Department of Human Genetics Leiden University Medical Center The Netherlands

11. Centre Hospitalier Universitaire Timone Adultes, Biogénopôle, Service de Génétique Médicale Marseille France

12. Department of Neurosciences, Division of Neurology Ribeirao Preto Medical School, University of São Paulo Ribeirão Preto Brazil

13. Department of Diagnostic Genomics PathWest Laboratory Medicine Perth Western Australia Australia

14. Department of Neuromuscular Research, National Institute of Neuroscience National Center of Neurology and Psychiatry (NCNP) Tokyo Japan

15. Department of Genome Medicine Development Clinical Genome Analysis, Medical Genome Center (MGC), National Center of Neurology and Psychiatry (NCNP) Tokyo Japan

16. Department of Neurology Koç University Hospital Muscle Center, Koç University Medical Faculty Istanbul Turkey

17. Clinical Laboratory Geneticist Human Genetics, UZ Leuven Leuven Belgium

18. Department of Neurology All India Institute of Medical Sciences (AIIMS) Delhi India

19. EMQN CIC Manchester UK

20. Senator Paul D. Wellstone Muscular Dystrophy Specialized Research Center, Department of Pathology Roy J. And Lucille A. Carver College of Medicine, The University of Iowa Iowa City Iowa USA

21. Department of Neurology Radboud university medical center Nijmegen The Netherlands

Abstract

AbstractThe gold standard for facioscapulohumeral muscular dystrophy (FSHD) genetic diagnostic procedures was published in 2012. With the increasing complexity of the genetics of FSHD1 and 2, the increase of genetic testing centers, and the start of clinical trials for FSHD, it is crucial to provide an update on our knowledge of the genetic features of the FSHD loci and renew the international consensus on the molecular testing recommendations. To this end, members of the FSHD European Trial Network summarized the evidence presented during the 2022 ENMC meeting on Genetic diagnosis, clinical outcome measures, and biomarkers. The working group additionally invited genetic and clinical experts from the USA, India, Japan, Australia, South‐Africa, and Brazil to provide a global perspective. Six virtual meetings were organized to reach consensus on the minimal requirements for genetic confirmation of FSHD1 and FSHD2. Here, we present the clinical and genetic features of FSHD, specific features of FSHD1 and FSHD2, pros and cons of established and new technologies (Southern blot in combination with either linear or pulsed‐field gel electrophoresis, molecular combing, optical genome mapping, FSHD2 methylation analysis and FSHD2 genotyping), the possibilities and challenges of prenatal testing, including pre‐implantation genetic testing, and the minimal requirements and recommendations for genetic confirmation of FSHD1 and FSHD2. This consensus is expected to contribute to current clinical management and trial‐readiness for FSHD.

Funder

National Institute of Neurological Disorders and Stroke

Publisher

Wiley

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