Table 2.
Mutational spectrum in non-PMM2 patients.
| Diagnosis | Variant | Status |
|---|---|---|
| ALG13-CDG (X-linked) |
c.320A > G, p.Asn107Ser, de novo |
Heterozygous |
| c.280A > G, p.Lys94Glu, de novo |
Hemizygous | |
| ALG1-CDG (AR) | c.773C > T, p.Ser258Leu |
Heterozygous |
| c.1182C > G, p.Phe394Leu |
Heterozygous | |
| MPI-CDG (AR) | c.1193 T > C, p. Ile398Thr |
Homozygous (siblings) |
| c.656G > A, p.Arg219Glu |
Heterozygous | |
| c.748G > A, p.Gly250Ser |
Heterozygous | |
| PGM1-CDG (AR) | c.988G > C, p.Gly330Arg |
Heterozygous |
| c.1129G > A, p.Glu377Lys |
Heterozygous | |
| SRD5A3-CDG (AR) | c.292_293del, p.Leu98ValfsX121 |
Homozygous (siblings) |
| c.424C > T, p.Arg142X |
Homozygous or heterozygous | |
| c.489C > A, p.Tyr163Ter |
Heterozygous | |
| DPAGT1-CDG (AR) | c.1117C > G, p. Pro373Ala |
Heterozygous |
| c.1197 T > A, p.Tyr399X |
Heterozygous | |
| ATP6AP1-CDG (X-linked) | c.1284G > A, p.Met428Ile |
Homozygous (siblings) |
| ATP6V0A2-CDG (AR) | c.2015 T > A, p.Leu672X |
Heterozygous |
| c.130delG, p.N43fsX55 |
Heterozygous | |
| VMA21-CDG (X-linked) |
c.188A > G, p.Asn63Gly |
Heterozygous |