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. Author manuscript; available in PMC: 2014 Feb 22.
Published in final edited form as: J Med Genet. 2013 Jul 11;50(10):674–688. doi: 10.1136/jmedgenet-2013-101558

Table 5.

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

Patient ID Disease presentation Gene Type Mutations
3739 LCA CEP290 Compound Heterozygous c.5344C>T, p.R1782×
c.1667_1668insA, p.I556Nfs×20
3640 LCA CEP290 Compound Heterozygous c.1260_1264del, p.K421Gfs×2
c.2991+1655A>G
3645 LCA CEP290 Compound Heterozygous c.3811C>T, p.R1271×
c.2991+1655A>G40
3650 LCA CEP290 Compound Heterozygous c.547_550del, p.Y183Rfs×4
c.2991+1655A>G40
3653 LCA CEP290 Compound Heterozygous c.4882C>T, p.Q1628×
c.2991+1655A>G40
3666 LCA CEP290 Compound Heterozygous c.1219_1220del, p.M407Efs×14
c.2991+1655A>G40
3741 LCA CEP290 Compound Heterozygous c.4723A>T, p.K1575×42
c.2052+1_2052+2del
418 LCA CRB1 Homozygous c.984G>A, p.W328×
3557 LCA CRB1 Homozygous c.3687C>A, p.C1229×
1413 LCA GUCY2D Homozygous c.1116G>A, p.W372×
3796 LCA IQCB1 Compound Heterozygous c.1518_1519del, p.H506QfsX1357
c.1381C>T, p.R461×
3752 LCA IQCB1 Compound Heterozygous c.1518_1519del, p.H506Qfs×1357
c.1465C>T, p.R489×
3737 LCA IQCB1 Compound Heterozygous c.1465C>T, p.R489×
c.1381C>T, p.R461×
4019 LCA LRAT Homozygous c.613_614del, p.S205Yfs×27
3561 LCA OTX2 Heterozygous c.543_544insCTCA, p.Q181Hfs×7
1842 Juvenile RP PDE6A Homozygous c.205C>T, p.Q69×
3676 LCA RPGRIP1 Compound Heterozygous c.1083_1084insGA, p.V364Efs×12
c.3749-1G>T
3677 LCA RPGRIP1 Compound Heterozygous c.1083_1084insGA, p.V364Efs×12
c.3749-1G>T
1315 LCA SPATA7 Homozygous c.1216—1G>A
3679 LCA SPATA7 Homozygous c.1373del, p.V458Efs×48
3757 LCA TULP1 Compound Heterozygous c.1376_1377del, p.I459Rfs×12
1271 LCA TULP1 Homozygous c.725_728del, p.P242Qfs×16
c.1113—2A>C

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