Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients

Using whole-exome sequencing (WES), functional prediction tools, Sanger sequencing, and segregation analysis, we identified variants in several genes: ALG2 (3 patients), DPM2 (3 patients), PMM2 (3 patients), and ALG13 (2 patients). Additionally, variants in COG5, COG6, MOGS, DPM3, ALG1, ALG3, ALG11, SSR4 and SLC35A2 each were observed in single case. In total, 28 distinct variants were identified, 11 of which were previously unreported. […] This findings expand the spectrum of known clinical presentations and genetic variants in CDG, and establish possible genotype-phenotype correlations of several pathogenic genes, emphasizing the need for functional studies to unravel the underlying mechanisms.