Table 5

Twenty-two patients carrying novel LOF mutations in LCA or juvenile RP genes

Patient IDDisease presentationGeneTypeMutations
3739LCACEP290Compound Heterozygousc.5344C>T, p.R1782X
c.1667_1668insA, p.I556NfsX20
3640LCACEP290Compound Heterozygousc.1260_1264del, p.K421GfsX2
c.2991+1655A>G40
3645LCACEP290Compound Heterozygousc.3811C>T, p.R1271X
c.2991+1655A>G40
3650LCACEP290Compound Heterozygousc.547_550del, p.Y183RfsX4
c.2991+1655A>G40
3653LCACEP290Compound Heterozygousc.4882C>T, p.Q1628X
c.2991+1655A>G40
3666LCACEP290Compound Heterozygousc.1219_1220del, p.M407EfsX14
c.2991+1655A>G40
3741LCACEP290Compound Heterozygousc.4723A>T, p.K1575X42
c.2052+1_2052+2del
418LCACRB1Homozygousc.984G>A, p.W328X
3557LCACRB1Homozygousc.3687C>A, p.C1229X
1413LCAGUCY2DHomozygousc.1116G>A, p.W372X
3796LCAIQCB1Compound Heterozygousc.1518_1519del, p.H506QfsX1357
c.1381C>T, p.R461X
3752LCAIQCB1Compound Heterozygousc.1518_1519del, p.H506QfsX1357
c.1465C>T, p.R489X
3737LCAIQCB1Compound Heterozygousc.1465C>T, p.R489X
c.1381C>T, p.R461X
4019LCALRATHomozygousc.613_614del, p.S205YfsX27
3561LCAOTX2Heterozygousc.543_544insCTCA, p.Q181HfsX7
1842Juvenile RPPDE6AHomozygousc.205C>T, p.Q69X
3676LCARPGRIP1Compound Heterozygousc.1083_1084insGA, p.V364EfsX12
c.3749–1G>T
3677LCARPGRIP1Compound Heterozygousc.1083_1084insGA, p.V364EfsX12
c.3749–1G>T
1315LCASPATA7Homozygousc.1216–1G>A
3679LCASPATA7Homozygousc.1373del, p.V458EfsX48
3757LCATULP1Compound Heterozygousc.1376_1377del, p.I459RfsX12
c.725_728del, p.P242QfsX16
1271LCATULP1Homozygousc.1113–2A>C

  • LCA, Leber congenital amaurosis; LOF, loss-of-function; RP, retinitis pigmentosa.