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Article

Compound Heterozygous FKTN Variants in a Patient with Dilated Cardiomyopathy Led to an Aberrant α-Dystroglycan Pattern

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Erich und Hanna Klessmann-Institut für Kardiovaskuläre Forschung und Entwicklung, Klinik für Thorax- und Kardiovaskularchirurgie, Herz und Diabeteszentrum NRW, Universitätsklinikum der Ruhr-Universität Bochum, Georgstr. 11, 32545 Bad Oeynhausen, Germany
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Zentrum für Angeborene Herzfehler, Herz und Diabeteszentrum NRW, Universitätsklinikum der Ruhr-Universität Bochum, Georgstr. 11, 32545 Bad Oeynhausen, Germany
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Kardiopathologie, Institut für Pathologie und Neuropathologie, Universitätsklinikum Tübingen, Liebermeisterstraße 8, 72076 Tübingen, Germany
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Authors to whom correspondence should be addressed.
Academic Editors: Vasileios Siokas and Efthimios Dardiotis
Int. J. Mol. Sci. 2022, 23(12), 6685; https://doi.org/10.3390/ijms23126685
Received: 13 May 2022 / Revised: 13 June 2022 / Accepted: 14 June 2022 / Published: 15 June 2022
(This article belongs to the Special Issue Genetic Basis and Epidemiology of Myopathies 2.0)
Fukutin encoded by FKTN is a ribitol 5-phosphate transferase involved in glycosylation of α-dystroglycan. It is known that mutations in FKTN affect the glycosylation of α-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 FKTN. Our work showed that compound heterozygous mutations in FKTN lead to a loss of fully glycosylated α-dystroglycan and result in cardiomyopathy and end-stage heart failure at a young age. View Full-Text
Keywords: cardiogenetics; cardiomyopathy; dystroglycanopathy; fukutin; heart failure cardiogenetics; cardiomyopathy; dystroglycanopathy; fukutin; heart failure
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MDPI and ACS Style

Gaertner, A.; Burr, L.; Klauke, B.; Brodehl, A.; Laser, K.T.; Klingel, K.; Tiesmeier, J.; Schulz, U.; Knyphausen, E.z.; Gummert, J.; Milting, H. Compound Heterozygous FKTN Variants in a Patient with Dilated Cardiomyopathy Led to an Aberrant α-Dystroglycan Pattern. Int. J. Mol. Sci. 2022, 23, 6685. https://doi.org/10.3390/ijms23126685

AMA Style

Gaertner A, Burr L, Klauke B, Brodehl A, Laser KT, Klingel K, Tiesmeier J, Schulz U, Knyphausen Ez, Gummert J, Milting H. Compound Heterozygous FKTN Variants in a Patient with Dilated Cardiomyopathy Led to an Aberrant α-Dystroglycan Pattern. International Journal of Molecular Sciences. 2022; 23(12):6685. https://doi.org/10.3390/ijms23126685

Chicago/Turabian Style

Gaertner, Anna, Lidia Burr, Baerbel Klauke, Andreas Brodehl, Kai Thorsten Laser, Karin Klingel, Jens Tiesmeier, Uwe Schulz, Edzard zu Knyphausen, Jan Gummert, and Hendrik Milting. 2022. "Compound Heterozygous FKTN Variants in a Patient with Dilated Cardiomyopathy Led to an Aberrant α-Dystroglycan Pattern" International Journal of Molecular Sciences 23, no. 12: 6685. https://doi.org/10.3390/ijms23126685

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