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Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.
Rudnik-Schöneborn, S; Tölle, D; Senderek, J; Eggermann, K; Elbracht, M; Kornak, U; von der Hagen, M; Kirschner, J; Leube, B; Müller-Felber, W; Schara, U; von Au, K; Wieczorek, D; Bußmann, C; Zerres, K.
Afiliación
  • Rudnik-Schöneborn S; Institute of Human Genetics, RWTH Aachen University Hospital, Aachen, Germany.
  • Tölle D; Institute of Human Genetics, RWTH Aachen University Hospital, Aachen, Germany.
  • Senderek J; Institute of Human Genetics, RWTH Aachen University Hospital, Aachen, Germany.
  • Eggermann K; Friedrich-Baur-Institute, LMU Munich, Munich, Germany.
  • Elbracht M; Institute of Human Genetics, RWTH Aachen University Hospital, Aachen, Germany.
  • Kornak U; Institute of Human Genetics, RWTH Aachen University Hospital, Aachen, Germany.
  • von der Hagen M; Institute of Medical Genetics and Human Genetics, Charité-University Berlin, Berlin, Germany.
  • Kirschner J; Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
  • Leube B; Department of Neuropediatrics, University Hospital Freiburg, Freiburg, Germany.
  • Müller-Felber W; Medical Faculty, Institute of Human Genetics and Anthropology, Heinrich-Heine University, Düsseldorf, Germany.
  • Schara U; Dr. v. Hauner Childrens Hospital, University of Munich, Munich, Germany.
  • von Au K; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University Essen, Essen, Germany.
  • Wieczorek D; SPZ Pediatric Neurology, Charité University Berlin, Berlin, Germany.
  • Bußmann C; Institute of Human Genetics, University Essen, Essen, Germany.
  • Zerres K; Center for Children and Adolescent Medicine, University Clinic Heidelberg, Heidelberg, Germany.
Clin Genet ; 89(1): 34-43, 2016 Jan.
Article en En | MEDLINE | ID: mdl-25850958
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Algoritmos / Enfermedad de Charcot-Marie-Tooth / Pruebas Genéticas Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Clin Genet Año: 2016 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Dinamarca
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Algoritmos / Enfermedad de Charcot-Marie-Tooth / Pruebas Genéticas Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Clin Genet Año: 2016 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Dinamarca