Compound heterozygous \(\it FKTN\) variants in a patient with dilated cardiomyopathy led to an aberrant \(\alpha\)-dystroglycan pattern
- Fukutin encoded by \(\it FKTN\) is a ribitol 5-phosphate transferase involved in glycosylation of \(\alpha\)-dystroglycan. It is known that mutations in \(\it FKTN\) affect the glycosylation of \(\alpha\)-dystroglycan, leading to a dystroglycanopathy. Dystroglycanopathies are a group of syndromes with a broad clinical spectrum including dilated cardiomyopathy and muscular dystrophy. In this study, we reported the case of a patient with muscular dystrophy, early onset dilated cardiomyopathy, and elevated creatine kinase levels who was a carrier of the compound heterozygous variants p.Ser299Arg and p.Asn442Ser in \(\it FKTN\). Our work showed that compound heterozygous mutations in \(\it FKTN\) lead to a loss of fully glycosylated \(\alpha\)-dystroglycan and result in cardiomyopathy and end-stage heart failure at a young age.
| Author: | Anna Gärtner-RommelORCiDGND, Lidia BurrGND, Bärbel KlaukeORCiDGND, Andreas BrodehlORCiDGND, Kai Thorsten LaserORCiDGND, Karin KlingelORCiDGND, Jens TiesmeierGND, Uwe SchulzGND, Edzard zu KnyphausenGND, Jan GummertORCiDGND, Hendrik MiltingORCiDGND |
|---|---|
| URN: | urn:nbn:de:hbz:294-102405 |
| DOI: | https://doi.org/10.3390/ijms23126685 |
| Parent Title (English): | International journal of molecular sciences |
| Publisher: | MDPI |
| Place of publication: | Basel, Schweiz |
| Document Type: | Article |
| Language: | English |
| Date of Publication (online): | 2023/08/28 |
| Date of first Publication: | 2022/06/15 |
| Publishing Institution: | Ruhr-Universität Bochum, Universitätsbibliothek |
| Tag: | Open Access Fonds cardiogenetics; cardiomyopathy; dystroglycanopathy; fukutin; heart failure |
| Volume: | 23 |
| Issue: | 12, Article 6685 |
| First Page: | 6685-1 |
| Last Page: | 6685-13 |
| Note: | Article Processing Charge funded by the Deutsche Forschungsgemeinschaft (DFG) and the Open Access Publication Fund of Ruhr-Universität Bochum. |
| Institutes/Facilities: | Erich und Hanna Klessmann-Institut für kardiovaskuläre Forschung und Entwicklung |
| Dewey Decimal Classification: | Technik, Medizin, angewandte Wissenschaften / Medizin, Gesundheit |
| open_access (DINI-Set): | open_access |
| Licence (English): |  Creative Commons - CC BY 4.0 - Attribution 4.0 International |
