Genetic findings in Czech patients with limb girdle muscular
dystrophy

J 2023

Genetic findings in Czech patients with limb girdle muscular dystrophy

ZÍDKOVÁ, Jana, Tereza KRAMÁŘOVÁ, Johana KOPČILOVÁ, Kamila RÉBLOVÁ, Jana HABERLOVÁ et. al.

Basic information

Original name

Genetic findings in Czech patients with limb girdle muscular dystrophy

Authors

ZÍDKOVÁ, Jana (203 Czech Republic, belonging to the institution), Tereza KRAMÁŘOVÁ (203 Czech Republic, belonging to the institution), Johana KOPČILOVÁ (203 Czech Republic, belonging to the institution), Kamila RÉBLOVÁ (203 Czech Republic, belonging to the institution), Jana HABERLOVÁ (203 Czech Republic), Radim MAZANEC (203 Czech Republic), Stanislav VOHÁŇKA (203 Czech Republic), Andrea GŘEGOŘOVÁ (203 Czech Republic), Martina LANGOVÁ (203 Czech Republic), Tomáš HONZÍK (203 Czech Republic), Jana ŠOUKALOVÁ (203 Czech Republic, belonging to the institution), Hana OŠLEJŠKOVÁ (203 Czech Republic, belonging to the institution), Pavla SOLAŘOVÁ, Emilie VYHNÁLKOVÁ (203 Czech Republic) and Lenka FAJKUSOVÁ (203 Czech Republic, guarantor, belonging to the institution)

Edition

Clinical Genetics, Hoboken, Wiley, 2023, 0009-9163

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30101 Human genetics

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 3.500 in 2022

RIV identification code

RIV/00216224:14110/23:00132756

Organization unit

Faculty of Medicine

DOI

http://dx.doi.org/10.1111/cge.14407

UT WoS

001040552100001

Keywords in English

genetic diagnostics; LGMD; limb girdle muscular dystrophy; next generation sequencing

Abstract

V originále

Limb girdle muscular dystrophies (LGMD) are a genetically heterogeneous group of muscular dystrophies. The study presents an overview of molecular characteristics of a large cohort of LGMD patients who are representative of the Czech LGMD population. We present 226 LGMD probands in which 433 mutant alleles carrying 157 different variants with a supposed pathogenic effect were identified. Fifty-four variants have been described only in the Czech LGMD population so far. LGMD R1 caplain3-related is the most frequent subtype of LGMD involving 53.1% of patients with genetically confirmed LGMD, followed by LGMD R9 FKRP-related (11.1%), and LGMD R12 anoctamin5-related (7.1%). If we consider identified variants, then all but five were small-scale variants. One large gene deletion was identified in the LAMA2 gene and two deletions in each of CAPN3 and SGCG. We performed comparison our result with other published studies. The results obtained in the Czech LGMD population clearly differ from the outcome of other LGMD populations in two aspects-we have a more significant proportion of patients with LGMD R1 calpain3-related and a smaller proportion of LGMD R2 dysferlin-related.

Links

LM2018132, research and development project

Name: Národní centrum lékařské genomiky (Acronym: NCLG)

Investor: Ministry of Education, Youth and Sports of the CR, National Center for Medical Genomics

NU21-06-00363, research and development project

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

Investor: Ministry of Health of the CR

Citovat

ZÍDKOVÁ, Jana, Tereza KRAMÁŘOVÁ, Johana KOPČILOVÁ, Kamila RÉBLOVÁ, Jana HABERLOVÁ, Radim MAZANEC, Stanislav VOHÁŇKA, Andrea GŘEGOŘOVÁ, Martina LANGOVÁ, Tomáš HONZÍK, Jana ŠOUKALOVÁ, Hana OŠLEJŠKOVÁ, Pavla SOLAŘOVÁ, Emilie VYHNÁLKOVÁ and Lenka FAJKUSOVÁ. Genetic findings in Czech patients with limb girdle muscular dystrophy. Clinical Genetics. Hoboken: Wiley, 2023, vol. 104, No 5, p. 542-553. ISSN 0009-9163. Available from: https://dx.doi.org/10.1111/cge.14407.

@article{2355821,
   author = {Zídková, Jana and Kramářová, Tereza and Kopčilová, Johana and Réblová, Kamila and Haberlová, Jana and Mazanec, Radim and Voháňka, Stanislav and Gřegořová, Andrea and Langová, Martina and Honzík, Tomáš and Šoukalová, Jana and Ošlejšková, Hana and Solařová, Pavla and Vyhnálková, Emilie and Fajkusová, Lenka},
   article_location = {Hoboken},
   article_number = {5},
   doi = {http://dx.doi.org/10.1111/cge.14407},
   keywords = {genetic diagnostics; LGMD; limb girdle muscular dystrophy; next generation sequencing},
   language = {eng},
   issn = {0009-9163},
   journal = {Clinical Genetics},
   title = {Genetic findings in Czech patients with limb girdle muscular dystrophy},
   url = {https://doi.org/10.1111/cge.14407},
   volume = {104},
   year = {2023}
}

TY  - JOUR
ID  - 2355821
AU  - Zídková, Jana - Kramářová, Tereza - Kopčilová, Johana - Réblová, Kamila - Haberlová, Jana - Mazanec, Radim - Voháňka, Stanislav - Gřegořová, Andrea - Langová, Martina - Honzík, Tomáš - Šoukalová, Jana - Ošlejšková, Hana - Solařová, Pavla - Vyhnálková, Emilie - Fajkusová, Lenka
PY  - 2023
TI  - Genetic findings in Czech patients with limb girdle muscular dystrophy
JF  - Clinical Genetics
VL  - 104
IS  - 5
SP  - 542-553
EP  - 542-553
PB  - Wiley
SN  - 00099163
KW  - genetic diagnostics
KW  - LGMD
KW  - limb girdle muscular dystrophy
KW  - next generation sequencing
UR  - https://doi.org/10.1111/cge.14407
N2  - Limb girdle muscular dystrophies (LGMD) are a genetically heterogeneous group of muscular dystrophies. The study presents an overview of molecular characteristics of a large cohort of LGMD patients who are representative of the Czech LGMD population. We present 226 LGMD probands in which 433 mutant alleles carrying 157 different variants with a supposed pathogenic effect were identified. Fifty-four variants have been described only in the Czech LGMD population so far. LGMD R1 caplain3-related is the most frequent subtype of LGMD involving 53.1% of patients with genetically confirmed LGMD, followed by LGMD R9 FKRP-related (11.1%), and LGMD R12 anoctamin5-related (7.1%). If we consider identified variants, then all but five were small-scale variants. One large gene deletion was identified in the LAMA2 gene and two deletions in each of CAPN3 and SGCG. We performed comparison our result with other published studies. The results obtained in the Czech LGMD population clearly differ from the outcome of other LGMD populations in two aspects-we have a more significant proportion of patients with LGMD R1 calpain3-related and a smaller proportion of LGMD R2 dysferlin-related.
ER  -

ZÍDKOVÁ, Jana, Tereza KRAMÁŘOVÁ, Johana KOPČILOVÁ, Kamila RÉBLOVÁ, Jana HABERLOVÁ, Radim MAZANEC, Stanislav VOHÁŇKA, Andrea GŘEGOŘOVÁ, Martina LANGOVÁ, Tomáš HONZÍK, Jana ŠOUKALOVÁ, Hana OŠLEJŠKOVÁ, Pavla SOLAŘOVÁ, Emilie VYHNÁLKOVÁ and Lenka FAJKUSOVÁ. Genetic findings in Czech patients with limb girdle muscular dystrophy. \textit{Clinical Genetics}. Hoboken: Wiley, 2023, vol.~104, No~5, p.~542-553. ISSN~0009-9163. Available from: https://dx.doi.org/10.1111/cge.14407.

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