| Online-Ressource |
Verfasst von: | Rudnik-Schöneborn, Sabine [VerfasserIn]  |
| Tölle, D. [VerfasserIn]  |
| Senderek, J. [VerfasserIn]  |
| Eggermann, K. [VerfasserIn]  |
| Elbracht, M. [VerfasserIn]  |
| Kornak, U. [VerfasserIn]  |
| Hagen, M. von der [VerfasserIn]  |
| Kirschner, J. [VerfasserIn]  |
| Leube, B. [VerfasserIn]  |
| Müller‐Felber, W. [VerfasserIn]  |
| Schara, U. [VerfasserIn]  |
| Au, K. von [VerfasserIn]  |
| Wieczorek, D. [VerfasserIn]  |
| Bußmann, Cornelia [VerfasserIn]  |
| Zerres, K. [VerfasserIn]  |
Titel: | Diagnostic algorithms in Charcot-Marie-Tooth neuropathies |
Titelzusatz: | experiences from a German genetic laboratory on the basis of 1206 index patients |
Verf.angabe: | S. Rudnik‐Schöneborn, D. Tölle, J. Senderek, K. Eggermann, M. Elbracht, U. Kornak, M. von der Hagen, J. Kirschner, B. Leube, W. Müller‐Felber, U. Schara, K. von Au, D. Wieczorek, C. Bußmann and K. Zerres |
Jahr: | 2016 |
Jahr des Originals: | 2015 |
Umfang: | 10 S. |
Fussnoten: | First published: 08 April 2015 ; Gesehen am 06.05.2020 |
Titel Quelle: | Enthalten in: Clinical genetics |
Ort Quelle: | Oxford : Wiley-Blackwell, 1970 |
Jahr Quelle: | 2016 |
Band/Heft Quelle: | 89(2016), 1, Seite 34-43 |
ISSN Quelle: | 1399-0004 |
Abstract: | We present clinical features and genetic results of 1206 index patients and 124 affected relatives who were referred for genetic testing of Charcot-Marie-Tooth (CMT) neuropathy at the laboratory in Aachen between 2001 and 2012. Genetic detection rates were 56% in demyelinating CMT (71% of autosomal dominant (AD) CMT1/CMTX), and 17% in axonal CMT (24% of AD CMT2/CMTX). Three genetic defects (PMP22 duplication/deletion, GJB1/Cx32 or MPZ/P0 mutation) were responsible for 89.3% of demyelinating CMT index patients in whom a genetic diagnosis was achieved, and the diagnostic yield of the three main genetic defects in axonal CMT (GJB1/Cx32, MFN2, MPZ/P0 mutations) was 84.2%. De novo mutations were detected in 1.3% of PMP22 duplication, 25% of MPZ/P0, and none in GJB1/Cx32. Motor nerve conduction velocity was uniformly <38 m/s in median or ulnar nerves in PMP22 duplication, >40 m/s in MFN2, and more variable in GJB1/Cx32, MPZ/P0 mutations. Patients with CMT2A showed a broad clinical severity regardless of the type or position of the MFN2 mutation. Out of 75 patients, 8 patients (11%) with PMP22 deletions were categorized as CMT1 or CMT2. Diagnostic algorithms are still useful for cost-efficient mutation detection and for the interpretation of large-scale genetic data made available by next generation sequencing strategies. |
DOI: | doi:10.1111/cge.12594 |
URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext ; Verlag: https://doi.org/10.1111/cge.12594 |
| Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.12594 |
| DOI: https://doi.org/10.1111/cge.12594 |
Datenträger: | Online-Ressource |
Sprache: | eng |
Sach-SW: | CMT disease |
| electrophysiological classification |
| genetic diagnosis |
| genotype-phenotype correlation |
K10plus-PPN: | 1697289738 |
Verknüpfungen: | → Zeitschrift |
Diagnostic algorithms in Charcot-Marie-Tooth neuropathies / Rudnik-Schöneborn, Sabine [VerfasserIn]; 2016 (Online-Ressource)