An Intronic Heterozygous SYNE2 Splice Site Mutation: A Rare Cause for Myalgia and hyperCKemia?

Paulus T, Young N, Jessop E, Berwanger C, Clemen CS, Schröder R, Ploski R, Hagel C, Hellenbroich Y, Moser A, Karakesisoglou I (2024)

Publication Type: Journal article

Publication year: 2024

Journal

Muscles MDPI AG

Book Volume: 3

Pages Range: 0-

Journal Issue: 1

DOI: 10.3390/muscles3010010

Abstract

SYNE2 mutations have been associated with skeletal and cardiac muscle diseases, including Emery-Dreifuss muscular dystrophy (EDMD). Here, we present a 70-year-old male patient with muscle pain and elevated serum creatine kinase levels in whom whole-exome sequencing revealed a novel heterozygous SYNE2 splice site mutation (NM_182914.3:c.15306+2T>G). This mutation is likely to result in the loss of the donor splice site in intron 82. While a diagnostic muscle biopsy showed unspecific myopathological findings, immunofluorescence analyses of skeletal muscle and dermal cells derived from the patient showed nuclear shape alterations when compared to control cells. In addition, a significantly reduced nesprin-2 giant protein localisation to the nuclear envelope was observed in patient-derived dermal fibroblasts. Our findings imply that the novel heterozygous SYNE2 mutation results in a monoallelic splicing defect of nesprin-2, thereby leading to a rare cause of myalgia and hyperCKemia.

Authors with CRIS profile

Rolf Schröder Professur für Neuropathologie

Involved external institutions

Universität zu Lübeck DE Germany (DE) Durham University GB United Kingdom (GB) Deutsches Zentrum für Luft- und Raumfahrt e.V. (DLR) / German Aerospace Center DE Germany (DE) Wrocław Medical University / Uniwersytet Medyczny we Wrocławiu PL Poland (PL) Universitätsklinikum Hamburg-Eppendorf (UKE) DE Germany (DE)

How to cite

APA:

Paulus, T., Young, N., Jessop, E., Berwanger, C., Clemen, C.S., Schröder, R.,... Karakesisoglou, I. (2024). An Intronic Heterozygous SYNE2 Splice Site Mutation: A Rare Cause for Myalgia and hyperCKemia? Muscles, 3(1), 0-. https://doi.org/10.3390/muscles3010010

MLA:

Paulus, Theresa, et al. "An Intronic Heterozygous SYNE2 Splice Site Mutation: A Rare Cause for Myalgia and hyperCKemia?" Muscles 3.1 (2024): 0-.

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