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Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies.
Padilha, Janice Pacheco Dias; Brasil, Carolina Serpa; Hoefel, Alice Maria Luderitz; Winckler, Pablo Brea; Donis, Karina Carvalho; Brusius-Facchin, Ana Carolina; Saute, Jonas Alex Morales.
Affiliation
  • Padilha JPD; Graduate Program in Medicine, Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
  • Brasil CS; Translational Neurogenetics Laboratory, Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.
  • Hoefel AML; Division of Medical Genetics, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.
  • Winckler PB; Graduate Program in Medicine, Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
  • Donis KC; Neurogenetics Clinical Research Center, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.
  • Brusius-Facchin AC; Graduate Program in Medicine, Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
  • Saute JAM; Neurogenetics Clinical Research Center, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.
Clin Genet ; 98(2): 185-190, 2020 08.
Article in En | MEDLINE | ID: mdl-32506583
Diagnostic yield of genetic studies for Charcot-Marie-Tooth disease (CMT) is little known, with a lack of epidemiological data to build better diagnostic strategies outside the United States and Europe. We aimed to evaluate the performance of two molecular diagnostic strategies for patients with CMT, and to characterize epidemiological findings of these conditions in southern Brazil. We performed a single-center cross-sectional study, in which 94 patients (55 families) with CMT suspicion were evaluated. Overall, the diagnostic yield of the combined strategy of Multiplex-ligation-dependent-probe-amplification (MLPA) of PMP22/GJB1/MPZ and GJB1/MPZ/PMP22 Sanger sequencing was 63.6% (28/44) for index cases with demyelinating/intermediate CMT suspicion (21 CMT1A-PMP22, 5 CMTX1-GJB1 and 2 with probably CMT1B-MPZ diagnosis). Five of the 11 index cases (45.4%) with axonal CMT had at least a possible diagnosis with next generation sequencing (NGS) panel of 104 inherited neuropathies-related genes (one each with CMT1A-PMP22, CMT2A-MFN2, CMT2K-GDAP1, CMT2U-MARS, CMT2W-HARS1). Detailed clinical, neurophysiological and molecular data of families are provided. Sequential molecular diagnosis strategies with MLPA plus target Sanger sequencing for demyelinating/intermediate CMT had high diagnostic yield, and almost half of axonal CMT families had at least a possible diagnosis with the comprehensive NGS panel. Most frequent subtypes of CMT in our region are CMT1A-PMP22 and CMTX1-GJB1.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Charcot-Marie-Tooth Disease / Connexins / Myelin P0 Protein / Myelin Proteins Type of study: Diagnostic_studies / Observational_studies / Risk_factors_studies Limits: Adult / Female / Humans / Male Country/Region as subject: America do sul / Brasil Language: En Journal: Clin Genet Year: 2020 Document type: Article Affiliation country: Brazil Country of publication: Denmark

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Charcot-Marie-Tooth Disease / Connexins / Myelin P0 Protein / Myelin Proteins Type of study: Diagnostic_studies / Observational_studies / Risk_factors_studies Limits: Adult / Female / Humans / Male Country/Region as subject: America do sul / Brasil Language: En Journal: Clin Genet Year: 2020 Document type: Article Affiliation country: Brazil Country of publication: Denmark