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. 2020 Oct 16;10:17520. doi: 10.1038/s41598-020-74516-9

Table 1.

Clinical information of patients with AIPL1 variations: Patients with AIPL1 variations identified on both alleles.

Case Allele 1 Allele 2 Clinical diagnosis References
P1 c.116C>A; p.T39N c.116C>A; p.T39N LCA 32
P2 c.214T>C; p.W72R c.265T>C; p.C89R LCA 25
P3 c.266G>A; p.C89Y c.266G>A; p.C89Y LCA 33
P4 c.364G>A; p.G122R c.834G>A; p.W278X LCA 34
P5 c.364G>A; p.G122R c.364G>A; p.G122R RP This study
P6 c.364G>C; p.G122R c.834G>A; p.W278X RP/late onset retinal degeneration 25
P7 c.364G>C; p.G122R c.834G>A; p.W278X Mild RP This study
P8 c.364G>C; p.G122R c.834G>A; p.W278X Mild RP This study
P9 c.582C>G; p.Y194X c.834G>A; p.W278X LCA 35
P10* c.666G>A; p.W222X* c.834G>A; p.W278X LCA This study
P11 c.733G>T; p.E245X c.834G>A; p.W278X LCA 35
P12 c.809G>A; p.R270H c.834G>A; p.W278X LCA 36
P13 c.809G>A; p.R270H c.834G>A; p.W278X LCA 34
P14 c.809G>A; p.R270H c.834G>A; p.W278X LCA 33
P15 c.926_927ins CCTGAACCGCAGGGAGCT; p.E309DinsLNRREL c.926_927ins CCTGAACCGCAGGGAGCT; p.E309DInsLNRREL LCA 37
P16 c.1126C>T; p.P376S c.341C>T; p.T114I LCA 26
P17 c.1126C>T; p.P376S c.341C>T; p.T114I LCA 23
P18 c.1126C>T; p.P376S c.341C>T; p.T114I LCA 23
P19 c.1126C>T; p.P376S c.341C>T; p.T114I

EOSRD

LCA

 38
P20 c.1126C>T; p.P376S c.341C>T; p.T114I EOSRD

39

This study
P21 c.1126C>T; p.P376S c.1126C>T; p.P376S EOSRD

39

This study

The AIPL1 variants investigated in this study are shown in BOLD. LCA, Leber congenital amaurosis; EOSRD, early-onset severe retinal dystrophy; RP, retinitis pigmentosa; *, novel variation.