Identification of Two Novel Variants in ALG11 Causing Congenital Disorder of Glycosylation

Glycosylation, an essential cellular process found across all organisms, entails the addition of sugar residues to proteins and lipids, critical for the normal development of organs and nervous systems. Two main types of proteinglycosylation, N-glycosylation, and O-glycosylation,underpin this process [1,2]. Congenital disorders of glycosylation (CDGs) stem from gene defects disrupting these processes, leading toproteinor lipid dysfunction [3,4]. Involving nearly 2% of human genes, CDGs affect almost every organ of the body, particularly in infants, manifesting in neurological, gastrointestinal, cardiac, hepatic, immune, and hematological abnormalities.

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