Table 2 Mutations of LIG4Â gene identified in patients
From: LIG4 syndrome: clinical and molecular characterization in a Chinese cohort
Patients | Zygosity | Exon/Intron | Mutation | Amino acid | Source of variation |
|---|---|---|---|---|---|
P1 | Compound heterozygous | Exon2 | c.833G>T | p.R278L | Maternal |
| Â | Â | Exon2 | c.1271_1275delAAAGA | p.K424Rfs*20 | Paternal |
P2 | Compound heterozygous | Exon2 | c.833G>T | p.R278L | Paternal |
| Â | Â | Exon2 | c.1144_1145delCT | p.L382Efs*5 | Maternal |
P3 | Compound heterozygous | Exon2 | c.833G>T | p.R278L | Maternal |
| Â | Â | Exon2 | c.1277_1278delAA | p.E426Gfs*19 | Paternal |
P4 | Compound heterozygous | Exon2 | c.833G>T | p.R278L | Paternal |
| Â | Â | Exon2 | c.1271_1275delAAAGA | p.K424Rfs*20 | Maternal |
P5 | Compound heterozygous | Exon2 | c.833G>T | p.R278L | NA |
| Â | Â | Exon2 | c.1270_1274delAAAAG | p.K424Rfs*20 | NA |
P6 | Compound heterozygous | Exon2 | c.833G>T | p.R278L | NA |
| Â | Â | Exon2 | c.1271_1275delAAAGA | p.K424Rfs*20 | NA |
P7 | Compound heterozygous | Exon2 | c.833G>T | p.R278L | Paternal |
| Â | Â | Exon2 | c.1271_1275delAAAGA | p.K424Rfs*20 | Maternal |