Introduction

• Inherited myopathies (IMs) are a broad group of conditions with both clinical and genetic heterogeneity
• Some can be readily diagnosed clinically; however, other diagnoses are elusive even after muscle biopsy
• A positive genetic test can provide information about prognosis, quantify risk to other family members, and can be necessary for participation in relevant clinical trials or to access precision medicine therapies
• With the advent of next-generation sequencing (NGS), we can simultaneously sequence multiple genes, thus improving the clinical utility of genetic testing for individuals with IMs
• Given this, we investigated the yield of genetic testing in a cohort of patients with suspected IMs to determine the clinical utility of simultaneously testing both nuclear and mitochondrial genes in this patient population

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A positive genetic test result can impact medical management for individuals with inherited myopathy

• One in every 3 children tested received a positive result
• One in every 6 adults tested received a positive result​

Sensitive detection of copy number variants (CNV) is important

• 1 in 5 individuals with a positive result had a CNV with the majority being in the DMD gene responsible for Duchenne and Becker muscular dystrophy
• Gene therapy was recently approved for DMD

Blueprint Genetics value

• Noncoding variants and variants in the mitochondrial genome were responsible for the positive result in some individuals

Authors:

Kimberly Gall, Julie Hathaway, Lotta Koskinen, Kirsi Alakurtti, Åsa Hagström, Mònica Segura Castell, Heli Kuisma, Eija H Seppälä, Janica Djupsjöbacka, Mikko Muona, Tuuli Pietilä, Pertteli Salmenperä, Inka Saarinen, Ray Veeraraghavan, Samuel Myllykangas, Juha Koskenvuo

Presented at ACMG, ESHG 2024