RNA Sequencing Confirms the Pathogenicity of a Novel FHL1 Deletion in a Kinship With Emery–Dreifuss Muscular Dystrophy

Pathogenic variants in FHL1 are associated with X-linked reducing body myopathy, scapuloperoneal myopathy, myopathy with postural muscle atrophy or Emery-Dreifuss muscular dystrophy type 6. Emery-Dreifuss muscular dystrophy is characterized by joint contractures in childhood, progressive muscle weakness that starts in a humeroperoneal distribution and later extends to scapular and pelvic girdle muscles, and cardiac involvement that include conduction defects or cardiomyopathy. In this study, we report diagnosis of a patient with Emery-Dreifuss muscular dystrophy type 6 after identification of a novel deletion in FHL1, whose pathogenicity was clarified by RNA sequencing.