Table 2.
Mutations of LIG4 gene identified in patients
| Patients | Zygosity | Exon/Intron | Mutation | Amino acid | Source of variation |
|---|---|---|---|---|---|
| P1 | Compound heterozygous | Exon2 | c.833G>T | p.R278L | Maternal |
| Exon2 | c.1271_1275delAAAGA | p.K424Rfs*20 | Paternal | ||
| P2 | Compound heterozygous | Exon2 | c.833G>T | p.R278L | Paternal |
| Exon2 | c.1144_1145delCT | p.L382Efs*5 | Maternal | ||
| P3 | Compound heterozygous | Exon2 | c.833G>T | p.R278L | Maternal |
| Exon2 | c.1277_1278delAA | p.E426Gfs*19 | Paternal | ||
| P4 | Compound heterozygous | Exon2 | c.833G>T | p.R278L | Paternal |
| Exon2 | c.1271_1275delAAAGA | p.K424Rfs*20 | Maternal | ||
| P5 | Compound heterozygous | Exon2 | c.833G>T | p.R278L | NA |
| Exon2 | c.1270_1274delAAAAG | p.K424Rfs*20 | NA | ||
| P6 | Compound heterozygous | Exon2 | c.833G>T | p.R278L | NA |
| Exon2 | c.1271_1275delAAAGA | p.K424Rfs*20 | NA | ||
| P7 | Compound heterozygous | Exon2 | c.833G>T | p.R278L | Paternal |
| Exon2 | c.1271_1275delAAAGA | p.K424Rfs*20 | Maternal |