• Je něco špatně v tomto záznamu ?

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

K. Stehlíková, D. Skálová, J. Zídková, J. Haberlová, S. Voháňka, R. Mazanec, L. Mrázová, P. Vondráček, H. Ošlejšková, J. Zámečník, T. Honzík, J. Zeman, M. Magner, D. Šišková, M. Langová, V. Gregor, M. Godava, V. Smolka, L. Fajkusová,

. 2017 ; 91 (3) : 463-469. [pub] 20160926

Jazyk angličtina Země Dánsko

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc17031565

Grantová podpora
NT14574 MZ0 CEP - Centrální evidence projektů

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.

Citace poskytuje Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc17031565
003      
CZ-PrNML
005      
20181030141349.0
007      
ta
008      
171025s2017 dk f 000 0|eng||
009      
AR
024    7_
$a 10.1111/cge.12839 $2 doi
035    __
$a (PubMed)27447704
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a dk
100    1_
$a Stehlíková, Kristýna $u Centre of Molecular Biology and Gene Therapy, University Hospital Brno and Masaryk University, Brno, Czech Republic. $7 xx0142047
245    10
$a Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic / $c K. Stehlíková, D. Skálová, J. Zídková, J. Haberlová, S. Voháňka, R. Mazanec, L. Mrázová, P. Vondráček, H. Ošlejšková, J. Zámečník, T. Honzík, J. Zeman, M. Magner, D. Šišková, M. Langová, V. Gregor, M. Godava, V. Smolka, L. Fajkusová,
520    9_
$a 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.
650    _2
$a mladiství $7 D000293
650    _2
$a dospělí $7 D000328
650    _2
$a Česká republika $x epidemiologie $7 D018153
650    _2
$a ženské pohlaví $7 D005260
650    12
$a genetické testování $7 D005820
650    _2
$a vysoce účinné nukleotidové sekvenování $7 D059014
650    _2
$a lidé $7 D006801
650    _2
$a mužské pohlaví $7 D008297
650    _2
$a nemoci svalů $x epidemiologie $x genetika $x patofyziologie $7 D009135
650    _2
$a svalové dystrofie $x epidemiologie $x genetika $x patofyziologie $7 D009136
650    _2
$a mutace $7 D009154
650    12
$a sekvenční analýza DNA $7 D017422
650    _2
$a mladý dospělý $7 D055815
655    _2
$a časopisecké články $7 D016428
700    1_
$a Skálová, D $u Centre of Molecular Biology and Gene Therapy, University Hospital Brno and Masaryk University, Brno, Czech Republic.
700    1_
$a Zídková, J $u Centre of Molecular Biology and Gene Therapy, University Hospital Brno and Masaryk University, Brno, Czech Republic.
700    1_
$a Haberlová, Jana $u Department of Child Neurology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic. $7 xx0077362
700    1_
$a Voháňka, Stanislav $u Department of Neurology, University Hospital Brno, Brno, Czech Republic. $7 xx0060520
700    1_
$a Mazanec, Radim, $u Department of Neurology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic. $d 1959- $7 xx0037204
700    1_
$a Mrázová, Lenka $u Department of Child Neurology, University Hospital Brno, Brno, Czech Republic. $7 xx0200910
700    1_
$a Vondráček, Petr $u Department of Child Neurology, University Hospital Brno, Brno, Czech Republic. $7 _AN074948
700    1_
$a Ošlejšková, Hana, $u Department of Child Neurology, University Hospital Brno, Brno, Czech Republic. $d 1956- $7 mzk2008479452
700    1_
$a Zámečník, Josef, $u Department of Pathology and Molecular Medicine, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic. $d 1974- $7 xx0037787
700    1_
$a Honzík, T $u Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
700    1_
$a Zeman, J $u Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
700    1_
$a Magner, Martin $u Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic. $7 xx0084624
700    1_
$a Šišková, Dana $u Child Neurology, Thomayer's Hospital, Prague, Czech Republic. $7 xx0222650
700    1_
$a Langová, Martina, $u Department of Medical Genetics, Thomayer's Hospital, Prague, Czech Republic. $d 1967- $7 xx0004230
700    1_
$a Gregor, Vladimír, $u Department of Medical Genetics, Thomayer's Hospital, Prague, Czech Republic. $d 1950- $7 xx0061444
700    1_
$a Godava, Marek $u Centre of Fetal Medicine and Genetics, Olomouc, Czech Republic. $7 _AN065207
700    1_
$a Smolka, V $u Department of Paediatrics, University Hospital Olomouc, Olomouc, Czech Republic.
700    1_
$a Fajkusová, Lenka, $u Centre of Molecular Biology and Gene Therapy, University Hospital Brno and Masaryk University, Brno, Czech Republic. Central European Institute of Technology, Masaryk University, Brno, Czech Republic. Laboratory of Functional Genomics and Proteomics, NCBR, Faculty of Science, Masaryk University, Brno, Czech Republic. $d 1963- $7 xx0062747
773    0_
$w MED00001127 $t Clinical genetics $x 1399-0004 $g Roč. 91, č. 3 (2017), s. 463-469
856    41
$u https://pubmed.ncbi.nlm.nih.gov/27447704 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y a $z 0
990    __
$a 20171025 $b ABA008
991    __
$a 20181030141905 $b ABA008
999    __
$a ok $b bmc $g 1255158 $s 992592
BAS    __
$a 3
BAS    __
$a PreBMC
BMC    __
$a 2017 $b 91 $c 3 $d 463-469 $e 20160926 $i 1399-0004 $m Clinical genetics $n Clin Genet $x MED00001127
GRA    __
$a NT14574 $p MZ0
LZP    __
$a Pubmed-20171025

Najít záznam

Citační ukazatele

Možnosti archivace