Figure 1.

MOGS SNV Analysis in Individuals A and B

(A) Sanger sequencing of MOGS in the parents and individuals A and B reveal two paternally inherited variants at c.65C>A and c.329G>A and one maternally inherited variant at c.370C>T.

(B) Analysis of SNV reference allele frequency by digital PCR in the fibroblasts from MOGS-CDG individual A (Ind A) shows no significant loss of alleles at the three inherited SNVs in vitro.

(C) Digital PCR analysis of SNV alleles in blood-derived DNA shows no loss of alleles in either MOGS-CDG-affected individual (Ind A and Ind B) nor their parents (Mother and Father) in vivo.

Error bars indicate SD.