Table 2.
Novel variants identified in this study.
| No | Nucleotide change | AA change | Gene | no. of patients | Zygosity | ACMG | MutationTaster | Polyphen-2 | CADD |
|---|---|---|---|---|---|---|---|---|---|
| 1 | c. 2099A > C | p. Asn700Thr | POLR3B | 1 | Hom | Likely pathogenic (2) | DC | PD 0. 998 | 27. 2 |
| 2 | c. 786A > C | p. Gln262Asp | SLC17A5 | 1 | Hom | Likely pathogenic (2) | DC | PD 1. 000 | 24. 2 |
| 3 | c. 904_905delinsAT | p. Glu302Met | ABCD1 | 1 | Hemi | Likely pathogenic (2) | DC | NA | 26. 8 |
| 4 | c. 1628C > G | p. Pro543Arg | ABCD1 | 1 | Hemi | Likely pathogenic (2) | DC | PD 1. 000 | 23. 8 |
| 5 | c. 2002A > G + c. 1021G > T | p. Thr668Ala + p. Ala341Ser | ABCD1 | 1 | Hemi |
Likely pathogenic (2) Likely pathogenic (2) |
DC | PD 0. 761 | 23. 7 |
| 6 | c. 839G > C | p. Arg280Pro | ABCD1 | 1 | Hemi | Likely pathogenic (2) | DC | PD 1. 000 | 32 |
| 7 | c. 233C > A | p. Ser78Ter | RNASET2 | 1 | Hom | Pathogenic (1) | DC | NA | 36 |
| 8 | c. 437_449delCTCTGGCTCCACT | p. Ser146TyrfsX7 | ASPA | 1 | Hom | Pathogenic (1) | DC | NA | 34 |
| 9 | c. 359C > T | p. Ser120Phe | ASPA | 1 | Hom | Uncertain significance (3) | DC | PD 1. 000 | 29. 1 |
| 10 | c. 866G > A | p. ser289Ile | EIF2B4 | 1 | Hom | Uncertain significance (3) | DC | B 0. 002 | 22. 9 |
| 11 | c. 422G > T | p. Gly141Val | FUCA1 | 1 | Hom | Likely pathogenic (2) | DC | PD 1. 000 | 28. 8 |
| 12 | c. 82delG | p. Val28CysfsX105 | FUCA1 | 1 | Hom | Pathogenic (1) | DC | NA | 16. 62 |
| 13 | c. 830G > A | p. Ser277Asn | GALC | 1 | Hom | Likely pathogenic (2) | DC | PD 0. 946 | 23. 9 |
| 14 | c. 1942A > T | p. Lys648Ter | GALC | 1 | Hom | Uncertain significance (3) | DC | NA | 36 |
| 15 | c. 408 + 1G > C | – | L2HGDH | 1 | Hom | Pathogenic (1) | DC | NA | 34 |
| 16 | c. 1213A > G | p. Arg405Gly | L2HGDH | 1 | Hom | Uncertain significance (3) | DC | PD 1. 000 | 22. 7 |
| 17 | c. 183C > A | p. Cys61Ter | MLC1 | 1 | Hom | Pathogenic (1) | DC | NA | 37 |
| 18 | c. 819C > G | p. Phe273Leu | MLC1 | 1 | Hom | Uncertain significance (3) | DC | PD 0. 990 | 24. 1 |
| 19 | c. 571_572insC | p. Thr195AspfsX69 | GJC2 | 1 | Hom | Pathogenic (1) | DC | NA | 17. 5 |
| 20 | c. 118G > C | p. Ala40Pro | GJC2 | 2 | Hom | Likely pathogenic (2) | DC | PD 1. 000 | 24. 6 |
| 21 | c. 733 T > A | p. Cys245Ser | GJC2 | 2 | Hom | Likely pathogenic (2) | DC | PD 1. 000 | 25. 1 |
| 22 | c. 883C > T | p. Gln295Ter | GJC2 | 1 | Hom | Likely pathogenic (2) | DC | NA | 38 |
| 23 | c. 529_531delAAA | p. Lys177del | PEX13 | 1 | Hom | Pathogenic (1) | DC | NA | 22. 2 |
| 24 | c. 345C > G | p. Ile115Met | PEX14 | 1 | Het | Uncertain significance (3) | DC | PD 0. 999 | 23. 5 |
| 25 | c. 655_657delATT | p. Ile219del | HEXB | 1 | Hom | Pathogenic (1) | DC | NA | 20. 3 |
| 26 | c. 754C > T | p. Arg252Cys | HEXA | 1 | Hom | Likely pathogenic (2) | DC | PD 1. 000 | 30 |
| 27 | c. 1147-1G > T | – | HEXA | 1 | Hom | Pathogenic (1) | DC | NA | 28. 3 |
| 28 | c. 16C > T | p. Arg6Cys | PLA2G6 | 1 | Hom | Uncertain significance (3) | DC | PD 0. 994 | 25 |
| 29 | c. 416 T > A | p. Leu139Gln | GLB1 | 1 | Hom | Likely pathogenic (2) | DC | PD 1. 000 | 29. 3 |
| 30 | c. 997G > T | p. Asp333Tyr | SUCLA2 | 1 | Hom | Likely pathogenic (2) | DC | PD 1. 000 | 31 |
| 31 | c. 3482 + 6C > T | – | POLG | 1 | Hom | Uncertain significance (3) | DC | NA | 9. 6 |
| 32 | c. 29A > C | p. Gln10Pro | SDHAF1 | 1 | Hom | Uncertain significance (3) | DC | PD 1. 000 | 27 |
| 33 | c. 808_812delGAGCA | p. Glu270SerfsX20 | SURF1 | 1 | Hom | Pathogenic (1) | DC | NA | 35 |
| 34 | c. 362 + 5G > A | - | PPT1 | 1 | Hom | Pathogenic (1) | DC | NA | 21. 9 |
| 35 | c. 659A > C | p. Tyr220Ser | CLN6 | 1 | hom | Uncertain significance (3) | DC | PD 0. 986 | 32 |
| 36 | c. 392C > A | p. Thr131Lys | HSD17B4 | 1 | Hom | Likely pathogenic (2) | DC | PD 0. 985 | 33 |
| 37 | c. 1285G > A | p. Val429Met | NDUFS1 | 1 | Hom | Likely pathogenic (2) | DC | PD 0. 971 | 28. 8 |
| 38 | c. 415G > A | p. Asp139Asn | NDUFS7 | 1 | Hom | Likely pathogenic (2) | DC | PD 1. 000 | 25. 5 |
DC: disease causing, PD: probably damaging, Hom = homozygous, B = benign, NA = not available.