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Barbosa-Gouveia, Sofia; Vázquez-Mosquera, Maria Eugenia; González-Vioque, Emiliano; Hermida-Ameijeiras, Álvaro; Sánchez-Pintos, Paula; de Castro, Maria José; León, Soraya Ramiro; Gil-Fournier, Belén; Domínguez-González, Cristina; Camacho Salas, Ana; Negrão, Luis; Fineza, Isabel; Laranjeira, Francisco; Couce, Maria Luz

Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies

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  • Medientyp: E-Artikel
  • Titel: Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies
  • Beteiligte: Barbosa-Gouveia, Sofia; Vázquez-Mosquera, Maria Eugenia; González-Vioque, Emiliano; Hermida-Ameijeiras, Álvaro; Sánchez-Pintos, Paula; de Castro, Maria José; León, Soraya Ramiro; Gil-Fournier, Belén; Domínguez-González, Cristina; Camacho Salas, Ana; Negrão, Luis; Fineza, Isabel; Laranjeira, Francisco; Couce, Maria Luz
  • Erschienen: MDPI AG, 2022
  • Erschienen in: Journal of Clinical Medicine
  • Sprache: Englisch
  • DOI: 10.3390/jcm11102750
  • ISSN: 2077-0383
  • Schlagwörter: General Medicine
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:p>Neuromuscular diseases are genetically highly heterogeneous, and differential diagnosis can be challenging. Over a 3-year period, we prospectively analyzed 268 pediatric and adult patients with a suspected diagnosis of inherited neuromuscular disorder (INMD) using comprehensive gene-panel analysis and next-generation sequencing. The rate of diagnosis increased exponentially with the addition of genes to successive versions of the INMD panel, from 31% for the first iteration (278 genes) to 40% for the last (324 genes). The global mean diagnostic rate was 36% (97/268 patients), with a diagnostic turnaround time of 4–6 weeks. Most diagnoses corresponded to muscular dystrophies/myopathies (68.37%) and peripheral nerve diseases (22.45%). The most common causative genes, TTN, RYR1, and ANO5, accounted for almost 30% of the diagnosed cases. Finally, we evaluated the utility of the differential diagnosis tool Phenomizer, which established a correlation between the phenotype and molecular findings in 21% of the diagnosed patients. In summary, comprehensive gene-panel analysis of all genes implicated in neuromuscular diseases facilitates a rapid diagnosis and provides a high diagnostic yield.</jats:p>
  • Zugangsstatus: Freier Zugang