TABLE 1.
Overview of glycomics and genomics data of 36 CDG‐Ix patients
| No | Patient's ID | Glycomics classification | Gene | Genomics | cDNA variant | Amino acid change | Genotype |
|---|---|---|---|---|---|---|---|
| 1 | P76_CDGIx | ALG1‐CDG (Group 1) | ALG1 | Sanger |
NM_019109.5:c.143G > A NM_019109.5:c.826C > T |
p.(Arg48His) p.(Arg276Trp) |
Heterozygous Heterozygous |
| 2 | P77_CDGIx | ALG1‐CDG (Group 1) | ALG1 | Sanger |
NM_019109.5:c.293C > T NM_019109.5:c.1150G > A |
p.(Pro98Leu) p.(Gly384Arg) |
Heterozygous Heterozygous |
| 3 | P78_CDGIx | ALG1‐CDG (Group 1) | ALG1 | Sanger |
NM_019109.5:c.826C > T NM_019109.5:c.1051G > T |
p.(Arg276Trp) p.(Glu351*) |
Heterozygous Heterozygous |
| 4 | P79_CDGIx | ALG1‐CDG (Group 1) | Unsolved | Sanger | n/a | n/a | n/a |
| 5 | P80_CDGIx | Group 1.1 | PMM2 | smMIPs |
NM_000303.3:c.470T > C NM_000303.3:c.722G > C |
p.(Phe157Ser) p.(Cys241Ser) |
Heterozygous Heterozygous |
| 6 | P81_CDGIx | Group 1.1 | PMM2 | smMIPs |
NM_000303.3:c.97C > T NM_000303.3:c.484C > T |
p.(Gln33*) p.(Arg162Trp) |
Heterozygous Heterozygous |
| 7 | P82_CDGIx | Group 1.1 | PMM2 | smMIPs |
NM_000303.3:c.669C > A NM_000303.3:c.710C > G |
p.(Asp223Glu) p.(Thr237Arg) |
Heterozygous Heterozygous |
| 8 | P83_CDGIx | Group 1.1 | PMM2 | smMIPs |
NM_000303.3:c.422G > A NM_000303.3:c.484C > T |
p.(Arg141His) p.(Arg162Trp) |
Heterozygous Heterozygous |
| 9 | P84_CDGIx | Group 1.1 | PMM2 | smMIPs |
NM_000303.3:c.422G > A NM_000303.3:c.484C > T |
p.(Arg141His) p.(Arg162Trp) |
Heterozygous Heterozygous |
| 10 | P85_CDGIx | Group 1.1 | PMM2 | smMIPs |
NM_000303.3:c.422G > A NM_000303.3:c.484C > T |
p.(Arg141His) p.(Arg162Trp) |
Heterozygous Heterozygous |
| 11 | P86_CDGIx | Group 1.1 | PMM2 | smMIPs |
NM_000303.3:c.470T > C NM_000303.3:c.722G > C |
p.(Phe157Ser) p.(Cys241Ser) |
Heterozygous Heterozygous |
| 12 | P87_CDGIx | Group 1.1 | PMM2 | smMIPs |
NM_000303.3:c.193G > T NM_000303.3:c.422G > A |
p.(Asp65Tyr) p.(Arg141His) |
Heterozygous Heterozygous |
| 13 | P88_CDGIx | Group 1.1 | Unsolved | smMIPs | n/a | n/a | n/a |
| 14 | P89_CDGIx | Group 2.1 | DPM1 | WES |
NM_003859.3:c.1A > C NM_003859.3:c.274C > G |
p.? (start loss) p.(Arg92Gly) |
Heterozygous Heterozygous |
| 15 | P90_CDGIx | Group 2.1 | MPDU1 | smMIPs | NM_004870.4:c.532_534del | p.(His178del) | Homozygous |
| 16 | P91_CDGIx | Group 2.1 | MPDU1 | smMIPs | NM_004870.4:c.532_534del | p.(His178del) | Homozygous |
| 17 | P92_CDGIx | Group 2.1 | MPDU1 | smMIPs | NM_004870.4:c.69del | p.(Tyr23*) | Homozygous |
| 18 | P93_CDGIx | Group 2.1 | MPDU1 | smMIPs | NM_004870.4:c.69del | p.(Tyr23*) | Homozygous |
| 19 | P94_CDGIx | Group 2.2 | DPM3 | WES | NM_018973.3:c.344T > C | p.(Leu115Ser) | Homozygous |
| 20 | P95_CDGIx | Group 2.2 | SRD5A3 | smMIPs | NM_024592.5:c.460T > C | p.(Ser154Pro) | Homozygous |
| 21 | P96_CDGIx | Group 2.2 | SRD5A3 | smMIPs | NM_024592.5:c.697 + 1G > C | effect on splicing | Homozygous |
| 22 | P97_CDGIx | Group 2.2 | SRD5A3 | smMIPs |
NM_024592.5:c.32del NM_024592.5:c.697 + 1G > C |
p.(Ala11Glyfs*2) splicing effect |
Heterozygous Heterozygous |
| 23 | P98_CDGIx | Group 2.2 | DOLK | smMIPs | NM_014908.4:c.3G > C | loss of start codon | Homozygous |
| 24 | P99_CDGIx | Group 2.2 | PMM2 | smMIPs |
NM_000303.3:c.422G > A NM_000303.3:c.722G > C |
p.(Arg141His) p.(Cys241Ser) |
Heterozygous Heterozygous |
| 25 | P100_CDGIx | Group 2.2 | ALG11 | smMIPs |
NM_001004127.3:c.254C > T NM_001004127.3:c.1294G > T |
p.(Ala85Val) p.(Gly432*) |
Heterozygous Heterozygous |
| 26 | P101_CDGIx | Group 2.2 | Unsolved | smMIPs | n/a | n/a | n/a |
| 27 | P102_CDGIx | Group 2.2 | Unsolved | smMIPs | n/a | n/a | n/a |
| 28 | P103_CDGIx | Group 2.2 | Unsolved | smMIPs | n/a | n/a | n/a |
| 29 | P104_CDGIx | Group 2.2 | Unsolved | smMIPs | n/a | n/a | n/a |
| 30 | P105_CDGIx | Group 2.2 | Unsolved | smMIPs | n/a | n/a | n/a |
| 31 | P106_CDGIx | ALG12‐CDG (Group 3) | ALG12 | WES |
NM_024105.4:c.233C > T NM_024105.4:c.295 + 1G > A |
p.(Ser78Phe) effect on splicing |
Heterozygous Heterozygous |
| 32 | P107_CDGIx | Group 4 | DPAGT1 | smMIPs | NM_001382.4:c.988G > A | p.(Gly330Ser) | Homozygous |
| 33 | P108_CDGIx | Group 4 | DPAGT1 | smMIPs | NM_001382.4:c.988G > A | p.(Gly330Ser) | Homozygous |
| 34 | P109_CDGIx | Group 4 | ALG6 | smMIPs |
NM_013339.4:c.257 + 5G > A NM_013339.4:c.998C > T |
effect on splicing p.(Ala333Val) |
Heterozygous Heterozygous |
| 35 | P110_CDGIx | Group 4 | Unsolved | smMIPs | n/a | n/a | n/a |
| 36 | P111_CDGIx | Group 4 | ALG6 | smMIPs | NM_013339.4:c.391T > C | p.(Tyr131His) | Heterozygous |
Abbreviations: CDG, congenital disorders of glycosylation; cDNA, complementary DNA; ID, identification; n/a: not available; P, patient; smMIP, single‐molecule molecular inversion probes; WES, whole exome sequencing.