Compound Heterozygous <i>FKTN</i> Variants in a Patient with Dilated Cardiomyopathy Led to an Aberrant α-Dystroglycan Pattern
oleh: Anna Gaertner, Lidia Burr, Baerbel Klauke, Andreas Brodehl, Kai Thorsten Laser, Karin Klingel, Jens Tiesmeier, Uwe Schulz, Edzard zu Knyphausen, Jan Gummert, Hendrik Milting
| Format: | Article |
|---|---|
| Diterbitkan: | MDPI AG 2022-06-01 |
Deskripsi
Fukutin encoded by <i>FKTN</i> is a ribitol 5-phosphate transferase involved in glycosylation of α-dystroglycan. It is known that mutations in <i>FKTN</i> 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 <i>FKTN</i>. Our work showed that compound heterozygous mutations in <i>FKTN</i> lead to a loss of fully glycosylated α-dystroglycan and result in cardiomyopathy and end-stage heart failure at a young age.