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01.12.2014 | Research article | Ausgabe 1/2014 Open Access

BMC Neurology 1/2014

Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic

Zeitschrift:
BMC Neurology > Ausgabe 1/2014
Autoren:
Kristýna Stehlíková, Daniela Skálová, Jana Zídková, Lenka Mrázová, Petr Vondráček, Radim Mazanec, Stanislav Voháňka, Jana Haberlová, Markéta Hermanová, Josef Zámečník, Ondřej Souček, Hana Ošlejšková, Nina Dvořáčková, Pavla Solařová, Lenka Fajkusová
Wichtige Hinweise

Electronic supplementary material

The online version of this article (doi:10.​1186/​s12883-014-0154-7) contains supplementary material, which is available to authorized users.

Competing interests

The authors declare that they have no competing interests.

Authors’ contributions

KS, DS, JZ carried out the molecular genetic studies. LM, PV, RM, SV, JH, HO, ND, PS performed clinical diagnostics of LGMD patients. MH, JZ, OS were involved in pathological analysis of muscle tissue. LF participated in design study and manuscript preparation. All authors read and approved the final manuscript.

Abstract

Background

Autosomal recessive limb-girdle muscular dystrophies (LGMD2) include a number of disorders with heterogeneous etiology that cause predominantly weakness and wasting of the shoulder and pelvic girdle muscles. In this study, we determined the frequency of LGMD subtypes within a cohort of Czech LGMD2 patients using mutational analysis of the CAPN3, FKRP, SGCA, and ANO5 genes.

Methods

PCR-sequencing analysis; sequence capture and targeted resequencing.

Results

Mutations of the CAPN3 gene are the most common cause of LGMD2, and mutations in this gene were identified in 71 patients in a set of 218 Czech probands with a suspicion of LGMD2. Totally, we detected 37 different mutations of which 12 have been described only in Czech LGMD2A patients. The mutation c.550delA is the most frequent among our LGMD2A probands and was detected in 47.1% of CAPN3 mutant alleles. The frequency of particular forms of LGMD2 was 32.6% for LGMD2A (71 probands), 4.1% for LGMD2I (9 probands), 2.8% for LGMD2D (6 probands), and 1.4% for LGMD2L (3 probands).
Further, we present the first results of a new approach established in the Czech Republic for diagnosis of neuromuscular diseases: sequence capture and targeted resequencing. Using this approach, we identified patients with mutations in the DYSF and SGCB genes.

Conclusions

We characterised a cohort of Czech LGMD2 patients on the basis of mutation analysis of genes associated with the most common forms of LGMD2 in the European population and subsequently compared the occurrence of particular forms of LGMD2 among countries on the basis of our results and published studies.
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