Genetic and Structural Variations in Czech Patients With
Congenital Myopathies

J 2025

Genetic and Structural Variations in Czech Patients With Congenital Myopathies

ZÍDKOVÁ, Jana; Barbora LAUEROVA; Livie MENSOVA; Tereza KRAMÁŘOVÁ; Johana KOPČILOVÁ et. al.

Základní údaje

Originální název

Genetic and Structural Variations in Czech Patients With Congenital Myopathies

Autoři

ZÍDKOVÁ, Jana ; Barbora LAUEROVA; Livie MENSOVA; Tereza KRAMÁŘOVÁ; Johana KOPČILOVÁ; Kamila RÉBLOVÁ ; Magdaléna SOUKUP VODIČKOVÁ; Martina HUJŇÁKOVÁ; Jana HABERLOVA; Marie ROHLENOVA; Radim MAZANEC; Jana SOUKALOVA; Renata GAILLYOVÁ; Emilie VYHNALKOVA; Miroslava BALASCAKOVA; Pavlína DANHOFER; Lenka JUŘÍKOVÁ; Dagmar GRECMALOVA; Andrea GREGOROVA; Pavlina PLEVOVA; Martina LANGOVA; Tomas HONZIK; Martin MAGNER; Martina KLINCOVÁ; Pavla SOLAROVA; Maria SENKERIKOVA a Lenka FAJKUSOVÁ

Vydání

Clinical Genetics, Hoboken, Wiley-Blackwell, 2025, 0009-9163

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

10603 Genetics and heredity

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 2.300 v roce 2024

Organizační jednotka

Lékařská fakulta

DOI

https://doi.org/10.1111/cge.14782

UT WoS

001509967000001

EID Scopus

2-s2.0-105008430506

Klíčová slova anglicky

breakpoint analysis; congenital myopathy; deletion; structural variants

Štítky

14110320, 14110322, 14110323, 143160, CF GEN

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 24. 10. 2025 09:08, Mgr. Tereza Miškechová

Anotace

V originále

Congenital myopathies (CMs) are a heterogeneous group of genetic muscle disorders characterized by hypotonia and muscle weakness, with pathogenic variants identified in at least 41 genes and inheritance patterns including autosomal dominant (AD), recessive (AR), and X-linked (XL). We present 79 unrelated patients with genetically confirmed CM using next-generation sequencing (NGS). A total of 113 mutant alleles carrying 97 different variants with a presumed pathogenic effect were identified. According to the HGMD database, 54 of these variants have been reported exclusively in the Czech CM population to date. All but five variants were small-scale. Large gene deletions were identified in the MTM1, NEB, and RYR1 genes. Sequencing of breakpoint junctions in the identified NEB and RYR1 deletions provided insights into the upstream mechanisms leading to genomic instability and resulting in structural variations. We present the family with dominant inheritance of the NEB deletion of exons 19-78. We assume that our family represents another reported case of a dominant mutation in the NEB gene. Our results contribute to further knowledge in the field of neuromuscular diseases and mutational mechanisms.

Návaznosti

EF16_026/0008448, projekt VaV

Název: Analýza českých genomů pro teranostiku

LM2018132, projekt VaV

Název: Národní centrum lékařské genomiky (Akronym: NCLG)

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, Národní centrum lékařské genomiky

NU21-06-00363, projekt VaV

Název: Prohloubení poznatků o etiopatogenezi maligní hypertermie (MH) a zefektivnění diagnostického algoritmu MH pro českou populaci.

Investor: Ministerstvo zdravotnictví ČR, Prohloubení poznatků o etiopatogenezi Maligní hypertermie (MH) a zefektivnění diagnostického algoritmu MH pro českou populaci.

90254, velká výzkumná infrastruktura

Název: e-INFRA CZ II

Citovat

ZÍDKOVÁ, Jana; Barbora LAUEROVA; Livie MENSOVA; Tereza KRAMÁŘOVÁ; Johana KOPČILOVÁ; Kamila RÉBLOVÁ; Magdaléna SOUKUP VODIČKOVÁ; Martina HUJŇÁKOVÁ; Jana HABERLOVA; Marie ROHLENOVA; Radim MAZANEC; Jana SOUKALOVA; Renata GAILLYOVÁ; Emilie VYHNALKOVA; Miroslava BALASCAKOVA; Pavlína DANHOFER; Lenka JUŘÍKOVÁ; Dagmar GRECMALOVA; Andrea GREGOROVA; Pavlina PLEVOVA; Martina LANGOVA; Tomas HONZIK; Martin MAGNER; Martina KLINCOVÁ; Pavla SOLAROVA; Maria SENKERIKOVA a Lenka FAJKUSOVÁ. Genetic and Structural Variations in Czech Patients With Congenital Myopathies. Clinical Genetics. Hoboken: Wiley-Blackwell, 2025, s. 1-6. ISSN 0009-9163. Dostupné z: https://doi.org/10.1111/cge.14782.

@article{2511858,
   author = {Zídková, Jana and Lauerova, Barbora and Mensova, Livie and Kramářová, Tereza and Kopčilová, Johana and Réblová, Kamila and Soukup Vodičková, Magdaléna and Hujňáková, Martina and Haberlova, Jana and Rohlenova, Marie and Mazanec, Radim and Soukalova, Jana and Gaillyová, Renata and Vyhnalkova, Emilie and Balascakova, Miroslava and Danhofer, Pavlína and Juříková, Lenka and Grecmalova, Dagmar and Gregorova, Andrea and Plevova, Pavlina and Langova, Martina and Honzik, Tomas and Magner, Martin and Klincová, Martina and Solarova, Pavla and Senkerikova, Maria and Fajkusová, Lenka},
   article_location = {Hoboken},
   doi = {https://doi.org/10.1111/cge.14782},
   keywords = {breakpoint analysis; congenital myopathy; deletion; structural variants},
   language = {eng},
   issn = {0009-9163},
   journal = {Clinical Genetics},
   title = {Genetic and Structural Variations in Czech Patients With Congenital Myopathies},
   url = {https://onlinelibrary.wiley.com/doi/10.1111/cge.14782},
   year = {2025}
}

TY  - JOUR
ID  - 2511858
AU  - Zídková, Jana - Lauerova, Barbora - Mensova, Livie - Kramářová, Tereza - Kopčilová, Johana - Réblová, Kamila - Soukup Vodičková, Magdaléna - Hujňáková, Martina - Haberlova, Jana - Rohlenova, Marie - Mazanec, Radim - Soukalova, Jana - Gaillyová, Renata - Vyhnalkova, Emilie - Balascakova, Miroslava - Danhofer, Pavlína - Juříková, Lenka - Grecmalova, Dagmar - Gregorova, Andrea - Plevova, Pavlina - Langova, Martina - Honzik, Tomas - Magner, Martin - Klincová, Martina - Solarova, Pavla - Senkerikova, Maria - Fajkusová, Lenka
PY  - 2025
TI  - Genetic and Structural Variations in Czech Patients With Congenital Myopathies
JF  - Clinical Genetics
SP  - 1-6
EP  - 1-6
PB  - Wiley-Blackwell
SN  - 00099163
KW  - breakpoint analysis
KW  - congenital myopathy
KW  - deletion
KW  - structural variants
UR  - https://onlinelibrary.wiley.com/doi/10.1111/cge.14782
N2  - Congenital myopathies (CMs) are a heterogeneous group of genetic muscle disorders characterized by hypotonia and muscle weakness, with pathogenic variants identified in at least 41 genes and inheritance patterns including autosomal dominant (AD), recessive (AR), and X-linked (XL). We present 79 unrelated patients with genetically confirmed CM using next-generation sequencing (NGS). A total of 113 mutant alleles carrying 97 different variants with a presumed pathogenic effect were identified. According to the HGMD database, 54 of these variants have been reported exclusively in the Czech CM population to date. All but five variants were small-scale. Large gene deletions were identified in the MTM1, NEB, and RYR1 genes. Sequencing of breakpoint junctions in the identified NEB and RYR1 deletions provided insights into the upstream mechanisms leading to genomic instability and resulting in structural variations. We present the family with dominant inheritance of the NEB deletion of exons 19-78. We assume that our family represents another reported case of a dominant mutation in the NEB gene. Our results contribute to further knowledge in the field of neuromuscular diseases and mutational mechanisms.
ER  -

ZÍDKOVÁ, Jana; Barbora LAUEROVA; Livie MENSOVA; Tereza KRAMÁŘOVÁ; Johana KOPČILOVÁ; Kamila RÉBLOVÁ; Magdaléna SOUKUP VODIČKOVÁ; Martina HUJŇÁKOVÁ; Jana HABERLOVA; Marie ROHLENOVA; Radim MAZANEC; Jana SOUKALOVA; Renata GAILLYOVÁ; Emilie VYHNALKOVA; Miroslava BALASCAKOVA; Pavlína DANHOFER; Lenka JUŘÍKOVÁ; Dagmar GRECMALOVA; Andrea GREGOROVA; Pavlina PLEVOVA; Martina LANGOVA; Tomas HONZIK; Martin MAGNER; Martina KLINCOVÁ; Pavla SOLAROVA; Maria SENKERIKOVA a Lenka FAJKUSOVÁ. Genetic and Structural Variations in Czech Patients With Congenital Myopathies. \textit{Clinical Genetics}. Hoboken: Wiley-Blackwell, 2025, s.~1-6. ISSN~0009-9163. Dostupné z: https://doi.org/10.1111/cge.14782.

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