| KOPČILOVÁ, Johana, Hana PTÁČKOVÁ, Tereza KRAMÁŘOVÁ, Lenka FAJKUSOVÁ, Kamila RÉBLOVÁ, Jiří ZEMAN, Tomáš HONZÍK, Lucie ZDRAŽILOVÁ, Josef ZÁMEČNÍK, Patrícia BALÁŽOVÁ, Karin VIESTOVÁ, Miriam KOLNÍKOVÁ, Hana HANSÍKOVÁ and Jana ZÍDKOVÁ. Large TRAPPC11 gene deletions as a cause of muscular dystrophy and their estimated genesis. Journal of Medical Genetics. London: BMJ Publishing Group, 2024, vol. 61, No 9, p. 908-913. ISSN 0022-2593. Available from: https://dx.doi.org/10.1136/jmg-2024-110016. |
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@article{2437617,
author = {Kopčilová, Johana and Ptáčková, Hana and Kramářová, Tereza and Fajkusová, Lenka and Réblová, Kamila and Zeman, Jiří and Honzík, Tomáš and Zdražilová, Lucie and Zámečník, Josef and Balážová, Patrícia and Viestová, Karin and Kolníková, Miriam and Hansíková, Hana and Zídková, Jana},
article_location = {London},
article_number = {9},
doi = {http://dx.doi.org/10.1136/jmg-2024-110016},
keywords = {muscular dystrophy; copy-number variation},
language = {eng},
issn = {0022-2593},
journal = {Journal of Medical Genetics},
title = {Large TRAPPC11 gene deletions as a cause of muscular dystrophy and their estimated genesis},
url = {https://jmg.bmj.com/content/61/9/908},
volume = {61},
year = {2024}
}
TY - JOUR
ID - 2437617
AU - Kopčilová, Johana - Ptáčková, Hana - Kramářová, Tereza - Fajkusová, Lenka - Réblová, Kamila - Zeman, Jiří - Honzík, Tomáš - Zdražilová, Lucie - Zámečník, Josef - Balážová, Patrícia - Viestová, Karin - Kolníková, Miriam - Hansíková, Hana - Zídková, Jana
PY - 2024
TI - Large TRAPPC11 gene deletions as a cause of muscular dystrophy and their estimated genesis
JF - Journal of Medical Genetics
VL - 61
IS - 9
SP - 908-913
EP - 908-913
PB - BMJ Publishing Group
SN - 00222593
KW - muscular dystrophy
KW - copy-number variation
UR - https://jmg.bmj.com/content/61/9/908
N2 - Background: Transport protein particle (TRAPP) is a multiprotein complex that functions in localising proteins to the Golgi compartment. The TRAPPC11 subunit has been implicated in diseases affecting muscle, brain, eye and to some extent liver. We present three patients who are compound heterozygotes for a missense variant and a structural variant in the TRAPPC11 gene. TRAPPC11 structural variants have not yet been described in association with a disease. In order to reveal the estimated genesis of identified structural variants, we performed sequencing of individual breakpoint junctions and analysed the extent of homology and the presence of repetitive elements in and around the breakpoints. Methods: Biochemical methods including isoelectric focusing on serum transferrin and apolipoprotein C-III, as well as mitochondrial respiratory chain complex activity measurements, were used. Muscle biopsy samples underwent histochemical analysis. Next-generation sequencing was employed for identifying sequence variants associated with neuromuscular disorders, and Sanger sequencing was used to confirm findings. Results: We suppose that non-homologous end joining is a possible mechanism of deletion origin in two patients and non-allelic homologous recombination in one patient. Analyses of mitochondrial function performed in patients' skeletal muscles revealed an imbalance of mitochondrial metabolism, which worsens with age and disease progression. Conclusion: Our results contribute to further knowledge in the field of neuromuscular diseases and mutational mechanisms. This knowledge is important for understanding the molecular nature of human diseases and allows us to improve strategies for identifying disease-causing mutations.
ER -
KOPČILOVÁ, Johana, Hana PTÁČKOVÁ, Tereza KRAMÁŘOVÁ, Lenka FAJKUSOVÁ, Kamila RÉBLOVÁ, Jiří ZEMAN, Tomáš HONZÍK, Lucie ZDRAŽILOVÁ, Josef ZÁMEČNÍK, Patrícia BALÁŽOVÁ, Karin VIESTOVÁ, Miriam KOLNÍKOVÁ, Hana HANSÍKOVÁ and Jana ZÍDKOVÁ. Large TRAPPC11 gene deletions as a cause of muscular dystrophy and their estimated genesis. \textit{Journal of Medical Genetics}. London: BMJ Publishing Group, 2024, vol.~61, No~9, p.~908-913. ISSN~0022-2593. Available from: https://dx.doi.org/10.1136/jmg-2024-110016.
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