Table 4

Twenty-six patients carrying two reported mutations in LCA or juvenile RP genes

Patient IDDisease presentationGeneTypeMutations
1473LCAAIPL1Homozygousc.834G>A, p.W278X38
3745LCAAIPL1Compound Heterozygousc.834G>A, p.W278X38
c.547G>T, p.G183X4
3746LCAAIPL1Compound Heterozygousc.834G>A, p.W278X38
c.547G>T, p.G183X4
393LCAAIPL1Homozygousc.487C>T, p.Q163X39
3754LCAAIPL1Compound Heterozygousc.265T>C, p.C89R15
c.214T>C, p.W72R4
3638LCACEP290Homozygousc.2991+1655A>G40
3656LCACEP290Compound Heterozygousc.5668G>T, p.G1890X41
c.2991+1655A>G40
3661LCACEP290Homozygousc.2991+1655A>G40
3793LCACEP290Homozygousc.4723A>T, p.K1575X42
398LCACRB1Homozygousc.610_616del, p.I205DfsX13343
3738LCACRB1Compound Heterozygousc.1438T>C, p.C480R43
c.2945C>A, p.T982K4
1251LCACRB1Homozygousc.3996C>A, p.C1332X43
3722LCAGUCY2DCompound Heterozygousc.1343C>A, p.S448X44
c.2598G>C, p.K866N45
3778LCAGUCY2DHomozygousc.1343C>A, p.S448X44
3750LCAGUCY2DCompound Heterozygousc.2302C>T, p.R768W46
c.3271C>T, p.R1091X4
3577LCALCA5Homozygousc.835C>T, p.Q279X47
54LCALRATHomozygousc.217_218del, p.M73DfsX4848
622LCARDH12Compound Heterozygousc.146C>T, p.T49M37
c.805_809del, p.A269GfsX237
1256LCARDH12Compound Heterozygousc.146C>T, p.T49M37
c.805_809del, p.A269GfsX237
1278Juvenile RPRDH12Homozygousc.164C>T, p.T55M36
3916LCARDH12Compound Heterozygousc.582C>G, p.Y194X36
c.805_809del, p.A269GfsX237
3784LCARPE65Compound Heterozygousc.1205G>A, p.W402X4
c.1022T>C, p.L341S49
1259LCASPATA7Homozygousc.322C>T, p.R108X9
1303LCATULP1Homozygousc.1381C>G, p.L461V13
3670LCATULP1Homozygousc.901C>T, p.Q301X50
3671LCATULP1Homozygousc.901C>T, p.Q301X50

  • LCA, Leber congenital amaurosis; RP, retinitis pigmentosa.