Table 1 Results of mutation analysis in 25 patients with pathogenic or likely pathogenic mutations involving single nucleotide or several exons according to ACMG guideline
Patient | Gene | Inheritance | NM | Nucleotide change | Amino acid change | Zygosity | ACMG classification | ACMG evidence components | Origin of variant |
|---|---|---|---|---|---|---|---|---|---|
P1 | STXBP1 | AD | NM_003165.3 | c.733C > G | p.His245Asp | Heterozygosity | Pathogenic | PS2, PM2, PM5, PP3, PP4 | de novo |
P2 | STXBP1 | AD | NM_003165.3 | c.874C > T | p.Arg292Cys | Heterozygosity | Pathogenic | PS1, PS2, PM2, PP4 | de novo |
P3 | STXBP1 | AD | NM_003165.3 | c.1216C > T | p.Arg406Cys | Heterozygosity | Pathogenic | PS1, PS2, PM2, PM5, PP3, PP4 | de novo |
P4 | CDKL5 | XD | NM_003159.2 | c.511 T > A | p.Tyr171Asn | Heterozygosity | Pathogenic | PS2, PM2, PM5, PP3, PP4 | de novo |
P5 | CDKL5 | XD | NM_003159.2 | c.282 + 1G > A | splice site | Heterozygosity | Pathogenic | PVS1, PS2, PM2, PP4, PP5 | de novo |
P6 | KCNQ2 | AD | NM_172107.2 | c.917C > T | p.Ala306Val | Heterozygosity | Pathogenic | PS2, PM2, PP2, PP3, PP4, PP5 | de novo |
P7 | KCNQ2 | AD | NM_172107.2 | c.593G > A | p.Arg198Gln | Heterozygosity | Pathogenic | PS2, PM2, PP2, PP3, PP4, PP5 | de novo |
P8 | SCN1A | AD | NM_001165963.1 | c.5068_5069delinsG | p.Ser1690AlafsTer25 | Heterozygosity | Pathogenic | PVS1, PM2, PP4 | NA |
P9 | SCN1A | AD | NM_001165963.1 | c.1209dupT | p.Val404CysfsTer46 | Heterozygosity | Pathogenic | PVS1, PM2, PP4 | NA |
P10 | SYNGAP1 | AD | NM_006772.2 | c.980 T > C | p.Leu327Pro | Heterozygosity | Likely pathogenic | PS2, PM2, PP3, PP4, PP5 | de novo |
P11 | SYNGAP1 | AD | NM_006772.2 | c.1735C > T | p.Arg579Ter | Heterozygosity | Pathogenic | PVS1, PM2, PP4, PP5 | NA |
P12 | GNAO1 | AD | NM_020988.2 | c.118G > T | p.Gly40Trp | Heterozygosity | Pathogenic | PS2, PM2, PM5, PP3, PP4 | de novo |
P13 | GNAO1 | AD | NM_020988.2 | c.155A > C | p.Gln52Pro | Heterozygosity | Likely pathogenic | PS2, PM2, PP3, PP4 | de novo |
P14 | KCNT1 | AD | NM_020822.2 | c.2800G > A | p.Ala934Thr | Heterozygosity | Likely pathogenic | PS1, PM2, PP4 | NA |
P15 | KCNT1 | AD | NM_020822.2 | c.1038C > G | p.Phe346Leu | Heterozygosity | Likely pathogenic | PS2, PM2, PP2, PP4 | de novo |
P16 | BRAT1 | AR | NM_152743.3 | c.1576C > T | p.Gln526Ter | Heterozygosity | Likely pathogenic | PVS1, PM2, PP4 | maternal inheritance |
P16 | BRAT1 | AR | NM_152743.3 | exon 2–3 deletion | _ | Heterozygosity | Likely pathogenic | PM2, PM3, PP4, PP5 | NA |
P17 | WWOX | AR | NM_016373.2 | c.1060C > T | p.Gln354Ter | Heterozygosity | Pathogenic | PVS1, PM2, PM3, PP4 | maternal inheritance |
P17 | WWOX | AR | NM_016373.2 | exon 6–8 duplication | _ | Heterozygosity | Likely pathogenic | PM2, PM3, PP4, PP5 | paternal inheritance |
P18 | ZEB2 | AD | NM_014795.3 | c.1956C > A | p.Tyr652Ter | Heterozygosity | Pathogenic | PVS1, PS1, PM2, PP4 | NA |
P19 | CHD2 | AD | NM_001271.3 | c.1269dupA | p.Glu424ArgfsTer3 | Heterozygosity | Pathogenic | PVS1, PM2, PP4 | NA |
P20 | PRICKLE2 | AD | NM_198859.3 | c.2129_2147del | p.Arg710LeufsTer2 | Heterozygosity | Likely pathogenic | PVS1, PM2 | NA |
P21 | COL4A1 | AD | NM_001845.4 | c.2897G > A | p.Gly966Glu | Heterozygosity | Likely pathogenic | PS2, PM2, PP2, PP3, PP4 | de novo |
P22 | DNM1 | AD | NM_004408.2 | c.1195A > G | p.Arg399Gly | Heterozygosity | Likely pathogenic | PS2, PM2, PP2, PP3, PP4 | de novo |
P23 | SCN8A | AD | NM_014191.3 | c.782G > T | p.Cys261Phe | Heterozygosity | Likely pathogenic | PS2, PM2, PP2, PP3, PP4 | de novo |
P24 | MECP2 | XD | NM_004992.3 | c.1164_1207del | p.Pro389Ter | Heterozygosity | Pathogenic | PVS1, PM1, PM2, PP4 | NA |
P25 | SLC9A6 | XD | NM_006359.2 | c.316_325 + 28del | splice site | Heterozygosity | Pathogenic | PVS1, PS2, PM2, PP4 | de novo |