Institut für Humangenetik
Refine
Is part of the Bibliography
- yes (228)
Year of publication
Document Type
- Journal article (118)
- Doctoral Thesis (109)
- Book (1)
Keywords
- Fanconi-Anämie (13)
- Molekulargenetik (10)
- DNA methylation (9)
- Fanconi Anämie (9)
- DNS-Reparatur (8)
- Erbkrankheit (8)
- Epigenetik (7)
- Brustkrebs (6)
- Fanconi anemia (6)
- Mutation (6)
Institute
- Institut für Humangenetik (228)
- Theodor-Boveri-Institut für Biowissenschaften (48)
- Deutsches Zentrum für Herzinsuffizienz (DZHI) (6)
- Kinderklinik und Poliklinik (6)
- Fakultät für Biologie (5)
- Klinik und Poliklinik für Psychiatrie, Psychosomatik und Psychotherapie (5)
- Medizinische Klinik und Poliklinik I (5)
- Neurologische Klinik und Poliklinik (5)
- Lehrstuhl für Orthopädie (3)
- Institut für Anatomie und Zellbiologie (2)
Sonstige beteiligte Institutionen
- Comprehensive Hearing Center, Department of ORL, Plastic, Aesthetic and Reconstructive Head and Neck Surgery, Würzburg, Germany (1)
- DNA Analytics Core Facility, Biocenter, University of Würzburg, Würzburg, Germany (1)
- Department of Animal Ecology and Tropical Biology, University of Würzburg, Würzburg, Germany (1)
- Maastricht University, Maastricht, the Netherlands (1)
New techniques in molecular genetic diagnostics now allow for accurate diagnosis in a large proportion of patients with muscular diseases. Nevertheless, many patients remain unsolved, although the clinical history and/or the muscle biopsy give a clear indication of the involved genes. In many cases, there is a strong suspicion that the cause must lie in unexplored gene areas, such as deep-intronic or other non-coding regions. In order to find these changes, next-generation sequencing (NGS) methods are constantly evolving, making it possible to sequence entire genomes to reveal these previously uninvestigated regions. Here, we present a young woman who was strongly suspected of having a so far genetically unsolved sarcoglycanopathy based on her clinical history and muscle biopsy. Using short read whole genome sequencing (WGS), a homozygous inversion on chromosome 13 involving SGCG and LINC00621 was detected. The breakpoint in intron 2 of SGCG led to the absence of γ-sarcoglycan, resulting in the manifestation of autosomal recessive limb-girdle muscular dystrophy 5 (LGMDR5) in the young woman.