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Compound Heterozygous FKTN Variants in a Patient with Dilated Cardiomyopathy Led to an Aberrant α-Dystroglycan
Anna Gaertner1, Lidia Burr1, Baerbel Klauke1
1Erich 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.
Abstract:
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.
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