[Analysis of clinical features and pathogenic variants in a Chinese pedigree affected with congenital glycosylation disease].

Objective: To explore the clinical features and genetic basis for a Chinese pedigree diagnosed with congenital glycosylation disease (CGD).

Methods: Clinical manifestations of two brothers were analyzed. Whole exome sequencing was carried out for the sib pair. Suspected variants were verified by Sanger sequencing.

Results: Both the proband and her younger brother were found to carry compound heterozygous variants of the PMM2 gene, which included a known pathogenic mutation of c.395T>C (p.I132T) and a previously unreported c.448-1(delAG) in the 5' end of exon 6 of the gene.

Conclusion: The compound heterozygous variants of the PMM2 gene probably underlay the CGD in the sib pair.