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Sagath L, Lehtokari VL, Välipakka S, et al. Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin. Neuromuscul Disord. 2021;31(6):539-545doi: 10.1016/j.nmd.2021.03.006.
Sagath, L., Lehtokari, V. L., Välipakka, S., Vihola, A., Gardberg, M., Hackman, P., Pelin, K., Jokela, M., Kiiski, K., Udd, B., & Wallgren-Pettersson, C. (2021). Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin. Neuromuscular disorders : NMD, 31(6), 539-545. https://doi.org/10.1016/j.nmd.2021.03.006
Sagath, Lydia, et al. "Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin." Neuromuscular disorders : NMD vol. 31,6 (2021): 539-545. doi: https://doi.org/10.1016/j.nmd.2021.03.006
Sagath L, Lehtokari VL, Välipakka S, Vihola A, Gardberg M, Hackman P, Pelin K, Jokela M, Kiiski K, Udd B, Wallgren-Pettersson C. Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin. Neuromuscul Disord. 2021 Jun;31(6):539-545. doi: 10.1016/j.nmd.2021.03.006. Epub 2021 Mar 23. PMID: 33933294.
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Neuromuscul Disord. 2021 Jun;31(6):539-545. doi: 10.1016/j.nmd.2021.03.006. Epub 2021 Mar 23.

Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin.

Neuromuscular disorders : NMD

Lydia Sagath, Vilma-Lotta Lehtokari, Salla Välipakka, Anna Vihola, Maria Gardberg, Peter Hackman, Katarina Pelin, Manu Jokela, Kirsi Kiiski, Bjarne Udd, Carina Wallgren-Pettersson

Affiliations

  1. Folkhälsan Research Center, Helsinki, Finland; Department of Medical Genetics, Medicum, University of Helsinki, Finland. Electronic address: [email protected].
  2. Folkhälsan Research Center, Helsinki, Finland; Department of Medical Genetics, Medicum, University of Helsinki, Finland.
  3. Folkhälsan Research Center, Helsinki, Finland; Department of Medical Genetics, Medicum, University of Helsinki, Finland; Neuromuscular Research Centre, Fimlab Laboratories, Tampere University and University Hospital, Tampere, Finland.
  4. Department of Pathology, Turku University Hospital and Institute of Biomedicine, University of Turku, Turku, Finland.
  5. Folkhälsan Research Center, Helsinki, Finland; Department of Medical Genetics, Medicum, University of Helsinki, Finland; Molecular and Integrative Biosciences Research Programme, Faculty of Biological and Environmental Sciences, University of Helsinki, Helsinki, Finland.
  6. Division of Clinical Neurosciences, Turku University Hospital and University of Turku, Turku, Finland; Laboratory of Genetics, HUS Diagnostic Centre, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
  7. Folkhälsan Research Center, Helsinki, Finland; Department of Medical Genetics, Medicum, University of Helsinki, Finland; Laboratory of Genetics, HUS Diagnostic Centre, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
  8. Folkhälsan Research Center, Helsinki, Finland; Department of Medical Genetics, Medicum, University of Helsinki, Finland; Neuromuscular Research Centre, Tampere University and University Hospital, Tampere, Finland; Department of Neurology, Vaasa Central Hospital, Vaasa, Finland.

PMID: 33933294 DOI: 10.1016/j.nmd.2021.03.006

Abstract

We report the first mosaic mutation, a deletion of exons 11-107, identified in the nebulin gene in a Finnish patient presenting with a predominantly distal congenital myopathy and asymmetric muscle weakness. The female patient is ambulant and currently 26 years old. Muscle biopsies showed myopathic features with type 1 fibre predominance, strikingly hypotrophic type 2 fibres and central nuclei, but no nemaline bodies. The deletion was detected in a copy number variation analysis based on next-generation sequencing data. The parents of the patient did not carry the deletion. Mosaicism was detected using a custom, targeted comparative genomic hybridisation array. Expression of the truncated allele, less than half the size of full-length nebulin, was confirmed by Western blotting. The clinical and histological picture resembled that of a family with a slightly smaller deletion, and that in patients with recessively inherited distal forms of nebulin-caused myopathy. Asymmetry, however, was a novel feature.

Copyright © 2021 Elsevier B.V. All rights reserved.

Keywords: Copy number variation; Large deletion; Mosaicism; Nebulin; de novo mutation

Conflict of interest statement

Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this pa

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