Table 3

 Mutations in patients with juvenile autosomal recessive retinitis pigmentosa, Leber’s congenital amaurosis, and juvenile isolated retinitis pigmentosa

GeneSequence variation (official name39)Predicted effect (official name39)Predicted effect (traditional name)PatientDiseaseReference†
*Traditional name of RPE65:c.11+5G→A is RPE65:IVS1+5G→A.
†First published description of the mutation.
‡This combination of mutations has not been described in any published report.
ARRP, autosomal recessive retinitis pigmentosa; IRP, isolated retinitis pigmentosa; LCA, Leber’s congenital amaurosis.
CRB1 [c.2536A→T]+[c.2978G→A][p.Lys801X]+[p.Cys948Tyr]Lys801X and Cys948Tyr25378ARRP14 22, this study‡
[c.2978G→A] +[?][p.Cys948Tyr]+[?]Cys948Tyr22802LCA14
[c.2978G→A] +[?][p.Cys948Tyr] +[?]Cys948Tyr25718IRP14
[c.2978G→A] +[?][p.Cys948Tyr] +[?]Cys948Tyr26425IRP14
GUCY2D [c.3283delC]+[?][p.Pro1069ArgfsX37]+[?]Pro1069Arg25556IRPThis study
[c.2176C→T]+[?][p.Pro701Ser]+[?]Pro701Ser25855ARRP34
[c.2176C→T]+[?][p.Pro701Ser]+[?]Pro701Ser8432ARRP34
[c.2377C→T]+[?][p.Arg768Trp]+[?]Arg768Trp26669LCA40
RPE65 [c.1102T→C]+[c.11+5G→A]*[p.Tyr368His]+[splice site]Tyr368His24670LCA36 40
[c.1102T→C]+[ c.1102T→C][p.Tyr368His]+[p.Tyr368His]Tyr368His homozygous9359LCA3
RPGRIP1 [c.1614_1623del]+[?][p.Glu538Glufs2]+[?]Glu538Glu25140IRPThis study
[c.3341A→G]+[?][p.Asp1114Gly]+[?]Asp1114Gly25474IRP31