Table 3.
Ten novel mutations in the cases-series.
| Gene Name | Genotype (N) | Phenotype | NCBI ClinVar | Critical Functional | Global | East Asia | Taiwan Biobank. | CADD | Poly | SIFT | ACMG | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Domain | MAF | MAF | Predict | Phen2 | Score | ||||||||
| Patient 15 |
SCN1A (NM_001165963) |
c.362delC (p.Ala121fs) |
Frameshift | DEE | Novel | 0 | 0 | 0 | D | D | D | AD, de novo, (PVS1, PM2, PP3) |
|
| Patient 14 |
UBE3A (NM_130838) |
c.C219A (p.Thr73Ter) |
Nonsense | Encephalopathy and regression | Novel | 0 | 0 | 0 | D | D | D | AD from mother (PVS1, PM2, PP3) |
|
| Patient 16 |
SCN1A NM_001165963) |
c.3918 + 1 G > - | Splicing | DEE | Novel | 0 | 0 | 0 | D | D | D | AD, de novo (PVS1, PM2, PP3) |
|
| Patient 19 | SMARCA4 (NM_001128849) | c.3595G > A (p.Val1199Met) |
Missense | Seizure, severe global delay | Novel | Helicase C-terminal’ | 0 | 0 | 0 | D | D | D | AD, de novo (PS2, PM1, PM2, PP3) |
| Patient 21 |
SZT2 (NM_015284) |
c.1496 + 2T > C | Splicing | DEE | Novel | 0 | 0 | 0 | D | D | D | AR (PVS1, PM2, PP3) |
|
| Patient 21 |
SZT2 (NM_015284) |
c.9055T > C (p.Arg3019Ter) |
Nonsense | DEE | Novel | 0 | 0 | 0 | D | D | D | AR (PVS1, PM2, PP3) |
|
| Patient 22 | SUOX (NM_001032386.2) | c.258dupT (p.Lys87Ter) |
Indel | Leigh-like, regression | Novel | 0 | 0 | 0 | D | D | D | AR (PVS1, PM2, PP3) |
|
| Patient 23 |
SPTBN2 (NM_006946. 2) |
c.5515C > A (p.Gln1839Lys) |
Missense | Spinocerebellar ataxia 5 | Novel | Ankyrin binding domain | 0 | 0 | 0 | D | D | T | AD from mother (PM1 + PM2 + PP1 + PP3 + PP4) |
| Patient 24 | LAMA2 NM_000426.3 | c.1583dupA(p.Ser529GlufsTer19) | Indel | CMD, seizures | Novel | 0 | 0 | 0 | D | D | D | AR (PVS1, PM2, PP3) | |
| Patient 24 | LAMA2 NM_000426.3 | /c.6931A > T (p.Lys2311Ter) | Nonsense | CMD, seizures | Novel | 0 | 0 | 0 | D | D | D | AR (PVS1, PM2, PP3) |
DEE, developmental epileptic encephalopathy; CMD, Congenital muscular dystrophies; NCBI ClinVar, National Center for Biotechnology Information, clinical variability and predictability [12]; Global MAF, Global mutation allele frequency in EXAC browser; East Asia MAF, East Asia mutation allele frequency in EXAC browser; CADD predict, Combined Annotation Dependent Depletion prediction; D, damage; T, tolerant. ACMG, American College of Medical Genetics and Genomics and the Association for Molecular Pathology. The sequence data of each patient were checked against the GenBank reference sequence and version number of genes.