Vincenzo Nigro1, Marco Savarese. 1. aDipartimento di Biochimica, Biofisica e Patologia Generale, Seconda Università degli Studi di Napoli, Napoli bTelethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy cFolkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.
Abstract
PURPOSE OF REVIEW: The development of next-generation sequencing (NGS) technologies is transforming the practice of medical genetics and revolutionizing the approach to heterogeneous hereditary conditions, including skeletal muscle disorders. Here, we review the different NGS approaches described in the literature so far for the characterization of myopathic patients and the results obtained from the implementation of such approaches in a clinical setting. RECENT FINDINGS: The overall diagnostic rate of NGS strategies for patients affected by skeletal muscle disorders is higher than the success rate obtained using the traditional gene-by-gene approach. Moreover, many recent articles have been expanding the clinical phenotypes associated with already known disease genes. SUMMARY: NGS applications will soon be the first-tier test for skeletal muscle disorders. They will improve the diagnosis in myopathic patients, promoting their inclusion into novel therapeutic trials. At the same time, they will improve our knowledge about the molecular mechanisms causing skeletal muscle disorders, favoring the development of novel therapeutic approaches.
PURPOSE OF REVIEW: The development of next-generation sequencing (NGS) technologies is transforming the practice of medical genetics and revolutionizing the approach to heterogeneous hereditary conditions, including skeletal muscle disorders. Here, we review the different NGS approaches described in the literature so far for the characterization of myopathic patients and the results obtained from the implementation of such approaches in a clinical setting. RECENT FINDINGS: The overall diagnostic rate of NGS strategies for patients affected by skeletal muscle disorders is higher than the success rate obtained using the traditional gene-by-gene approach. Moreover, many recent articles have been expanding the clinical phenotypes associated with already known disease genes. SUMMARY: NGS applications will soon be the first-tier test for skeletal muscle disorders. They will improve the diagnosis in myopathic patients, promoting their inclusion into novel therapeutic trials. At the same time, they will improve our knowledge about the molecular mechanisms causing skeletal muscle disorders, favoring the development of novel therapeutic approaches.
Authors: Marco Savarese; Lorenzo Maggi; Anna Vihola; Per Harald Jonson; Giorgio Tasca; Lucia Ruggiero; Luca Bello; Francesca Magri; Teresa Giugliano; Annalaura Torella; Anni Evilä; Giuseppina Di Fruscio; Olivier Vanakker; Sara Gibertini; Liliana Vercelli; Alessandra Ruggieri; Carlo Antozzi; Helena Luque; Sandra Janssens; Maria Barbara Pasanisi; Chiara Fiorillo; Monika Raimondi; Manuela Ergoli; Luisa Politano; Claudio Bruno; Anna Rubegni; Marika Pane; Filippo M Santorelli; Carlo Minetti; Corrado Angelini; Jan De Bleecker; Maurizio Moggio; Tiziana Mongini; Giacomo Pietro Comi; Lucio Santoro; Eugenio Mercuri; Elena Pegoraro; Marina Mora; Peter Hackman; Bjarne Udd; Vincenzo Nigro Journal: JAMA Neurol Date: 2018-05-01 Impact factor: 18.302