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

Fukutin encoded by FKTN is a ribitol 5-phosphate transferase involved in glycosylation of alpha-dystroglycan. It is known that mutations in 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 FKTN. Our work showed that compound heterozygous mutations in FKTN lead to a loss of fully glycosylated alpha-dystroglycan and result in cardiomyopathy and end-stage heart failure at a young age.

Automated summary

This study reported a patient with muscular dystrophy and early onset dilated cardiomyopathy who carried compound heterozygous variants in FKTN. The research demonstrated that compound heterozygous mutations in FKTN result in loss of fully glycosylated alpha-dystroglycan, leading to cardiomyopathy and end-stage heart failure at a young age.