Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064190%3A_____%2F17%3AN0000002" target="_blank" >RIV/00064190:_____/17:N0000002 - isvavai.cz</a>

Alternative codes found

RIV/00216224:14740/17:00095960 RIV/00216208:11110/17:10360673 RIV/00216208:11130/17:10360673 RIV/65269705:_____/17:00066943 and 3 more

Result on the web

<a href="http://dx.doi.org/10.1111/cge.12839" target="_blank" >http://dx.doi.org/10.1111/cge.12839</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1111/cge.12839" target="_blank" >10.1111/cge.12839</a>

Result language

angličtina

Original language name

Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic

Original language description

Inherited neuromuscular disorder (NMD) is a wide term covering different genetic disorders affecting muscles, nerves, and neuromuscular junctions. Genetic and clinical heterogeneity is the main drawback in a routine gene-by-gene diagnostics. We present Czech NMD patients with a genetic cause identified using targeted next-generation sequencing (NGS) and the spectrum of these causes. Overall 167 unrelated patients presenting NMD falling into categories of muscular dystrophies, congenital muscular dystrophies, congenital myopathies, distal myopathies, and other myopathies were tested by targeted NGS of 42 known NMD-related genes. Pathogenic or probably pathogenic sequence changes were identified in 79 patients (47.3%). In total, 37 novel and 51 known disease-causing variants were detected in 23 genes. In addition, variants of uncertain significance were suspected in 7 cases (4.2%), and in 81 cases (48.5%) sequence changes associated with NMD were not found. Our results strongly indicate that for molecular diagnostics of heterogeneous disorders such as NMDs, targeted panel testing has a high-clinical yield and should therefore be the preferred first-tier approach. Further, we show that in the genetic diagnostic practice of NMDs, it is necessary to take into account different types of inheritance including the occurrence of an autosomal recessive disorder in two generations of one family.

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FP - Other medical fields

OECD FORD branch

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Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2017

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

CLINICAL GENETICS

ISSN

0009-9163

e-ISSN

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Volume of the periodical

91

Issue of the periodical within the volume

3

Country of publishing house

US - UNITED STATES

Number of pages

7

Pages from-to

463-469

UT code for WoS article

000395007600014

EID of the result in the Scopus database

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