Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience

• Published in: Clinical genetics Vol. 89; no. 4; pp. 484 - 488
• Main Authors: Seong, M.-W., Cho, A., Park, H.W., Seo, S.H., Lim, B.C., Seol, D., Cho, S.I., Park, S.S., Chae, J.H.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01-04-2016
• Subjects: Clinical medicine; gene panel; Genomics; molecular diagnosis; Muscular dystrophy; next-generation sequencing; muscular dystrophy; next-generation sequencing; gene panel; molecular diagnosis
• ISSN: 0009-9163; 1399-0004
• DOI: 10.1111/cge.12621

Muscular dystrophy (MD) is a genetically and clinically heterogeneous group of disorders. Here, we performed targeted sequencing of 18 limb‐girdle MD (LGMD)‐related genes in 35 patients who were highly suspected of having MD. We identified one or more pathogenic variants in 23 of 35 patients (65.7%), and a genetic diagnosis was performed in 20 patients (57.1%). LGMD2B was the most common LGMD type, followed by LGMD1B, LGMD2A, and LGMD2G. Among the three major LGMD types in this group, LGMD1B was correlated with the lowest creatine kinase (CK) levels and the earliest onset, whereas LGMD2B was correlated with the highest CK levels and the latest onset. Thus, next‐generation sequencing‐based gene panels can be a helpful tool for the diagnosis of MDs, particularly in young children and those displaying atypical symptoms.