RXYLT1encodes a ribitol-5-phosphate xylosyltransferase 1 involved in the O-mannosyl glycosylation of a-dystroglycan. Proper glycosylation is essential for skeletal muscle integrity and functional brain development. Reported pathogenic variants include: Missense mutations, Nonsense mutations, Frameshift mutations
These variants are predicted to impair enzymatic function, leading to the hypoglycosylation of a-dystroglycan and the subsequent disruption of extracellular matrix interactions.
Recent studies indicate:
• Distinct functional impacts depending on the mutation type
• A correlation between the degree of glycosylation defects and skeletal muscle pathology
Diagnostic approaches include:
• Gene panel sequencing for muscular dystrophies and dystroglycanopathies
• Whole exome or genome sequencing
• Functional assays evaluating a-dystroglycan glycosylation
RXYLT1