1. Compound Heterozygous FKTN Variants in a Patient with Dilated Cardiomyopathy Led to an Aberrant α-Dystroglycan Pattern.
- Author
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Gaertner, Anna, Burr, Lidia, Klauke, Baerbel, Brodehl, Andreas, Laser, Kai Thorsten, Klingel, Karin, Tiesmeier, Jens, Schulz, Uwe, Knyphausen, Edzard zu, Gummert, Jan, and Milting, Hendrik
- Subjects
DILATED cardiomyopathy ,GENETIC variation ,MUSCULAR dystrophy ,CREATINE kinase ,HEART failure - 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. [ABSTRACT FROM AUTHOR]
- Published
- 2022
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