Abstract |
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.
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Authors | Natalie Pluta, Sabine Hoffjan, Frederic Zimmer, Cornelia Köhler, Thomas Lücke, Jennifer Mohr, Matthias Vorgerd, Hoa Huu Phuc Nguyen, David Atlan, Beat Wolf, Ann-Kathrin Zaum, Simone Rost |
Journal | Genes
(Genes (Basel))
Vol. 13
Issue 10
(Sep 28 2022)
ISSN: 2073-4425 [Electronic] Switzerland |
PMID | 36292638
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Sarcoglycans
- SGCG protein, human
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Topics |
- Humans
- Female
- Sarcoglycans
(genetics)
- Chromosomes, Human, Pair 13
- Muscular Dystrophies, Limb-Girdle
(diagnosis, genetics)
- Homozygote
- Whole Genome Sequencing
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