Abstract:
INTRODUCTION:Limb-girdle muscular dystrophy (LGMD) is the fourth most common muscular dystrophy, with progressive proximal muscle weakness. However, a large number of neuromuscular conditions are similarly presented. Because of this, the use of high-throughput methods such as next-generation sequencing (NGS) is important in the evaluation of LGMD. METHODS:In this report, we applied a custom target capture-based NGS panel covering 31 LGMD-associated genes (MYOT, LMNA, CAV3, DES, DNAJB6, FLNC, CAPN3, DYSF, SGCG, SGCA, SGCB, SGCD, TCAP, TRIM32, FRKP, TTN, POMT1, ANO5, FKTN, POMT2, POMGnT1, DAG1, PLEC, GAA, GMPPB, HNRNPDL, TNPO3, LIMS2, POMK, TRAPPC11, ISPD) in 74 patients suspected of LGMD. RESULTS:In 25 (33.8%) out of 74 patients analyzed, one or more pathogenic/likely pathogenic variants in 13 different genes were detected. Six of the patients had the variants that were not found in databases and literature; thus, they were interpreted as novel pathogenic variants. DISCUSSION:The diagnosis rate achieved (33.8%) is consistent with previous literature reports and underlines the efficiency and importance of NGS technology in the molecular genetic evaluation of LGMD.
journal_name
Ann Hum Genetjournal_title
Annals of human geneticsauthors
Özyilmaz B,Kirbiyik Ö,Özdemir TR,Kaya Özer Ö,Kutbay YB,Erdogan KM,Güvenç MS,Kale MY,Gazeteci H,Kiliç B,Sertpoyraz F,Diniz G,Baydan F,Gençpinar P,Dündar NO,Yiş Udoi
10.1111/ahg.12319subject
Has Abstractpub_date
2019-09-01 00:00:00pages
331-347issue
5eissn
0003-4800issn
1469-1809journal_volume
83pub_type
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