Mutation spectrum of hereditary myopathies in Turkish patients and novel variants. (8th May 2021)

• Record Type: Journal Article
• Authors: Saat, Hanife; Sahin, Ibrahim
• Is Part Of: Annals of human genetics. Volume 85:Number 5(2021)
• Page Start: 178
• Page End: 185
• Publication Date: 2021-05-08
• Subjects: CES -- congenital myopathies -- hereditary myopathies -- muscular dystrophies -- next‐generation sequencing (NGS) -- WES; Human genetics -- Periodicals; 599.935
• DOI: 10.1111/ahg.12429
• Languages: English
• ISSNs: 0003-4800

Abstract

Abstract: Hereditary myopathies are a heterogeneous disorder known to be associated with more than 100 genes. Although hereditary myopathy subgroups can be partially described with traditional methods such as muscle biopsy, next‐generation sequencing (NGS) is essential to reveal the disease's underlying genetic etiology and molecular mechanisms. In this study, we performed clinical exome sequencing or whole‐exome sequencing (CES/WES) in 20 unrelated Turkish patients. Thirteen pathogenic or likely pathogenic variants, including five novel variantswere detected in the 16 known hereditary myopathy genes. We achieved a high rate of diagnosis (65%) compared to previous studies. The most common condition noticed was limb‐girdle muscular dystrophy (LGMD), which should not be ignored in patients diagnosed with myopathy. CES or WES provides a certain molecular diagnosis from a broad perspective to demonstrate underlying genetic causes in heterogeneous disorders. Therefore, exome sequencing offers a higher and more complete diagnosis than the gene panel.