Table 3 Genetic findings of 11 participants with pediatric genetic white matter disorders
From: Genotypic and phenotypic heterogeneity among Chinese pediatric genetic white matter disorders
Case | Gene | Mutation | 1000 g/ESP6500 /GnomAD | SIFT/Polyphen2 /MutationTaster | Clinvar | ACMG | PMID |
|---|---|---|---|---|---|---|---|
1 | ABCD1 (NM_000033) | c.1415_1416del p.Q472fs | -/-/- | Pathogenic | Pathogenic | 7,849,718 | |
2 | c.520T > G p.Y174D | -/-/- | D/D/A | Pathogenic | Likely pathogenic | 7,849,723 | |
3 | c.796G > A p.G266R | -/-/- | D/D/A | Pathogenic | Likely pathogenic | 9,195,223 | |
4 | c.1028G > A p.G343D | -/-/- | D/D/D | Likely pathogenic | VUS | ||
5 | EIF2B3 (NM_020365.4) | c.130G > A p.E44K | 0.0002/-/0.000008 | D/D/D | VUS | VUS | 34,755,279 |
c.450dupA p.A151fs | -/-/- | Likely pathogenic | Likely pathogenic | ||||
6 | EIF2B4 (NM_001034116.1) | c.1337G > A p.R446H | -/-/0.00006 | D/D/D | VUS | 35,860,328 | |
c.885 + 2T > G | -/-/- | Pathogenic | |||||
7 | EIF2B5 (NM_003907) | c.C385T p.R129X | -/-/0.000004 | Likely pathogenic | Pathogenic | ||
c.G633T p.R211S | -/-/- | D/P/D | VUS | ||||
8 | ARSA (NM_000487.5) | c.448 C > T p.P150S | -/-/- | D/D/D | VUS | VUS | |
c.242G > A p.G81D | -/-/- | D/D/D | VUS | ||||
9 | GFAP (NM_002055.4) | c.1246 C > T p.R416W | -/0.0005/0.00003 | D/D/D | Pathogenic | Likely pathogenic | 16,826,512 |
10 | NDUFS1 (NM_005006.6) | c.266T > A p.V89E | -/-/- | D/P/D | VUS | ||
c.1609 A > C p.I537L | -/-/0.00003 | T/B/D | VUS | ||||
11 | MPV17 (NM_002437) | c.A263T:p.K88M | -/-/0.00006 | D/D/D | Likely pathogenic | VUS | 22,964,873 |
c.C424T:p.Q142X | -/-/- | Likely pathogenic | |||||
c.A265T:p.M89L | -/-/0.00005 | D/P/D | VUS |