@article{BrodehlPourHakimiStanasiuketal.2019,
  author    = {Brodehl, Andreas and Pour Hakimi, Seyed Ahmad and Stanasiuk, Caroline and Ratnavadivel, Sandra and Hendig, Doris and Gaertner, Anna and Gerull, Brenda and Gummert, Jan and Paluszkiewicz, Lech and Milting, Hendrik},
  title     = {Restrictive cardiomyopathy is caused by a novel homozygous desmin (DES) mutation p.Y122H leading to a severe filament assembly defect},
  series = {Genes},
  volume    = {10},
  journal   = {Genes},
  number    = {11},
  issn      = {2073-4425},
  doi       = {10.3390/genes10110918},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-193121},
  year      = {2019},
  abstract  = {Here, we present a small Iranian family, where the index patient received a diagnosis of restrictive cardiomyopathy (RCM) in combination with atrioventricular (AV) block. Genetic analysis revealed a novel homozygous missense mutation in the DES gene (c.364T > C; p.Y122H), which is absent in human population databases. The mutation is localized in the highly conserved coil-1 desmin subdomain. In silico, prediction tools indicate a deleterious effect of the desmin (DES) mutation p.Y122H. Consequently, we generated an expression plasmid encoding the mutant and wildtype desmin formed, and analyzed the filament formation in vitro in cardiomyocytes derived from induced pluripotent stem cells and HT-1080 cells. Confocal microscopy revealed a severe filament assembly defect of mutant desmin supporting the pathogenicity of the DES mutation, p.Y122H, whereas the wildtype desmin formed regular intermediate filaments. According to the guidelines of the American College of Medical Genetics and Genomics, we classified this mutation, therefore, as a novel pathogenic mutation. Our report could point to a recessive inheritance of the DES mutation, p.Y122H, which is important for the genetic counseling of similar families with restrictive cardiomyopathy caused by DES mutations.},
  language  = {en}
}
@article{BrodehlGerull2022,
  author    = {Brodehl, Andreas and Gerull, Brenda},
  title     = {Genetic insights into primary restrictive cardiomyopathy},
  series = {Journal of Clinical Medicine},
  volume    = {11},
  journal   = {Journal of Clinical Medicine},
  number    = {8},
  issn      = {2077-0383},
  doi       = {10.3390/jcm11082094},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-270621},
  year      = {2022},
  abstract  = {Restrictive cardiomyopathy is a rare cardiac disease causing severe diastolic dysfunction, ventricular stiffness and dilated atria. In consequence, it induces heart failure often with preserved ejection fraction and is associated with a high mortality. Since it is a poor clinical prognosis, patients with restrictive cardiomyopathy frequently require heart transplantation. Genetic as well as non-genetic factors contribute to restrictive cardiomyopathy and a significant portion of cases are of unknown etiology. However, the genetic forms of restrictive cardiomyopathy and the involved molecular pathomechanisms are only partially understood. In this review, we summarize the current knowledge about primary genetic restrictive cardiomyopathy and describe its genetic landscape, which might be of interest for geneticists as well as for cardiologists.},
  language  = {en}
}