Table 3. The SLC25A13 ASVs detected by cDNA cloning analysis in patients C0360 and C0388.
| Patients | No. | ASVs | Annotations | Clones |
|---|---|---|---|---|
| C0360 | 1 | r.213_468del | Exon 4, 5 skipping | 15 |
| 2 | r.213_468del; r.616_754del | Exon 4, 5, 7 skipping | 1 | |
| 3 | r.213_468del; r.1453_1591del | Exon 4, 5, 15 skipping | 3 | |
| 4 | r.70_468del | Exon 3, 4, 5 skipping | 1 | |
| 5 | r.69_70ins69 + 12147_69 + 12282; r.213_468del | Exon 4, 5 skipping with partial intron 2 retention | 1 | |
| 6 | r.328_468del | Exon 5 skipping | 2 | |
| 7 | r.328_468del; r.755_848del | Exon 5, 8 skipping | 1 | |
| Total | 24 | |||
| C0388 | 1 | r.213_328del, r.851_854del | Exon 4 skipping, r.851_854del | 2 |
| 2 | r.213_328del, r.851_854del, r.1230_1231ins1230 + 1323_1230 + 1346 | Exon 4 skipping, r.851_854del with partial intron 12 retention | 1 | |
| 3 | r.213_328del, r.616_ 754del, r.851_854del | Exon 4, 7 skipping, r.851_854del | 1 | |
| 4 | r.213_328del, r.616_ 848del, r.851_854del, r.993_1018del | Exon 4, 7, 8 skipping, r.851_854del with partial exon 10 deletion | 1 | |
| 5 | r.213_328del, r.755_848del, r.851_854del | Exon 4, 8 skipping, r.851_854del | 3 | |
| 6 | r.616_625del, r.755_848del, r.851_854del | Exon 8 skipping, r.851_854del with partial exon 7 deletion | 1 | |
| 7 | r.213_328del, r.851_854del, r.1312_1452del | Exon 4, 14 skipping, r.851_854del | 3 | |
| 8 | r.213_328del, r.755_848del, r.851_854del, r.1312_1452del | Exon4, 8, 14 skipping, r.851_854del | 4 | |
| 9 | r.213_468del, r.755_848del, r.851_854del, r.1312_1452del | Exon 4, 5, 8, 14 skipping, r.851_854del | 1 | |
| 10 | r.213_328del, r.755_933del, r.1312_1452del | Exon4, 8,,9, 14 skipping | 3 | |
| 11 | r.213_328del, r.851_854del, r.1312_1591del, r.851_854del | Exon 4, 8, 14, 15 skipping, r.851_854del | 1 | |
| Total | 21 |
ASVs: alternative splicing variants. In patient C0360, the ASVs from the maternal SLC25A13 allele were not detected due to the mutation IVS16ins3kb, and thus all 24 detected ASVs in this patient had paternal origin, all featuring exon 5 skipping. In patient C0388, all 21 ASVs were from the maternal SLC25A13 allele harboring mutation [c.851_854del4; c.1452 + 1G > A], while those from the paternally-inherited allele with obscure mutation were not detected.