دورية أكاديمية
An Intronic Heterozygous SYNE2 Splice Site Mutation: A Rare Cause for Myalgia and hyperCKemia?
| العنوان: | An Intronic Heterozygous SYNE2 Splice Site Mutation: A Rare Cause for Myalgia and hyperCKemia? |
|---|---|
| المؤلفون: | Theresa Paulus, Natalie Young, Emily Jessop, Carolin Berwanger, Christoph Stephan Clemen, Rolf Schröder, Rafal Ploski, Christian Hagel, Yorck Hellenbroich, Andreas Moser, Iakowos Karakesisoglou |
| المصدر: | Muscles, Vol 3, Iss 1, Pp 100-109 (2024) |
| بيانات النشر: | MDPI AG, 2024. |
| سنة النشر: | 2024 |
| المجموعة: | LCC:Physiology LCC:Diseases of the musculoskeletal system |
| مصطلحات موضوعية: | emerin, lamin A/C, laminopathies, LINC complex, myalgia, nesprin, Physiology, QP1-981, Diseases of the musculoskeletal system, RC925-935 |
| الوصف: | 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. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2813-0413 |
| Relation: | https://www.mdpi.com/2813-0413/3/1/10; https://doaj.org/toc/2813-0413 |
| DOI: | 10.3390/muscles3010010 |
| URL الوصول: | https://doaj.org/article/e71a6d2e4cbc420a8756d1031e1da6dd |
| رقم الأكسشن: | edsdoj.71a6d2e4cbc420a8756d1031e1da6dd |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 28130413 |
|---|---|
| DOI: | 10.3390/muscles3010010 |