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Updated Structure of CNBP Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard Diagnostics

Year: 2024
Type: article
Study design: Observational Study
Abstract: Background and Objectives: gene. Standard diagnostic is based on Southern blot analysis or a unidirectional RP-PCR that amplifies the repeat from the downstream end. Methods: Our study reevaluated 80 patients (cohort 1) with clinical suspicion of DM2 but homozygous negative results using the standard diagnostic repeat-primed PCR (RP-PCR). Reanalysis was performed using a second RP-PCR that amplifies the repeat from the opposite direction. Individual samples were further analyzed by Oxford Nanopore Technology long-read sequencing, Sanger sequencing, and another RP-PCR. In addition, repeat expansions were further characterized in 168 patients with confirmed DM2 (cohort 2). Results: repeat is present in at least 84% of patients. Discussion: repeat on the phenotype remains to be determined but could be key for establishing a phenotype-genotype correlation for DM2 that remained elusive so far.
DOI: 10.1212/nxg.0000000000200220
Authors: Martin Wendlandt, Hannes Erdmann, Simone Rost, Morghan C. Lucas, Kerstin Becker, Stephanie Kleinle, Manuela Timmer, Andrea Bier, Gilbert Wunderlich, Stephan Wenninger, Maggie C. Walter, Teresa Neuhann, Benedikt Schoser, Elke Holinski-Feder, Angela Abicht
Institutions: Universitätsmedizin Greifswald, Universität Greifswald, Medical Genetics Center, LMU Klinikum, Ludwig-Maximilians-Universität München, University of Würzburg, University of Cologne, University Hospital Cologne
Language: English
Open Access status: gold
Estimated APC paid: $3,300
OpenAlex ID: W4405539438
FWCI: 0.48
Cites: 21
Cited by: 3
Related to: 10