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. 2018 May 29;8:8279. doi: 10.1038/s41598-018-26524-z

Table 1.

Potential pathogenic variants were identified in 19 of the analysed families.

Family ID Patient ID Affected gene Inherit –ance mode Identified variant Zygosity Origin (as per segregation analysis) ACMG classifi-cation Reference
EYE42 EYE42 NMNAT1 AR c.1A > G;p.? Het Maternal P 13
c.709C > T;p.(R237C) Het Paternal P 12,13
EYE68 EYE68 CRB1 AR c.668dupT;p.(L223Ffs*4) Het Maternal P Novel
c.733dupG;p.(A245Gfs*16) Het Maternal P Novel
c.1567dupC;p.(L523Pfs*28) Het Paternal P Novel
EYE69 EYE69 CEP290 AR c.2390delA;p.(K797Sfs*2) Het Maternal P 43
c.6889A > T;p.(K2297*) Het Paternal P Novel
EYE70 EYE70 CRX AD c.124G > A;p.(E42K) Het de novo P 15
EYE115 EYE115 CRB1 AR c.1334_1740del;p.(C445Yfs*8) Het Maternal P Novel
c.1576C > T;p.(R526*) Het Paternal P 42
EYE121 EYE121 CRB1 AR c.2T > C;p.? Het NAc P Novel
c.3068T > G;p.(L1023R) Het Maternal L.P Novel
EYE125 EYE125 IMPDH1 AD c.590A > C;p.(Q197P) Het de novo L.P Novel
EYE139 EYE139 GUCY2D AR c.2765A > G;p.(Y922C) Het Maternal L.P Novel
c.2983C > T;p.(R995W) Het Paternal P 14
EYE149 EYE149 RPGRIP1 AR c.799C > T;p.(R267*) Het Paternal P 15
c.1687C > T;p.(R563*) Het Maternal P Novel
EYE156 EYE156 PRPH2 AR c.730_736delinsCAGCTCCTCCAGACGGGTGCACCAGAC;p.(N244Qfs*19) Het Maternal P Novel
c.748T > G;p.(C250G) Het Paternal L.P Novel
EYE159 EYE159 NMNAT1 AR c.196C > T;p.(R66W) Het Maternal P 13
c.709C > T;p.(R237C) Het Paternal P 12,13
JIKEI-145 JU1039 LRAT AR c.163C > T;p.(R55W) Het Paternal P 33
Exon 1–3 deletion Het Maternal P Novel
JU1040 LRAT AR c.163C > T;p.(R55W) Het Paternal P 33
Exon 1–3 deletion Het Maternal P Novel
S132 S132 NMNAT1 AR c.196C > T;p.(R66W) Het Paternal P 13
c.709C > T;p.(R237C) Het Maternal P 12,13
EYE50 EYE50 RPGR XL c.977A > C;p.(K326T) Hemi Maternal L.P Novel
EYE114 EYE114 RP2 XL c.769–2A > G Hemi Maternal P Novel
EYE187 EYE187 BEST1 AD c.682G > T;p.(D228Y) Het Paternal (mosaic)b L.P Novel
EYE20a EYE20 RPGRIP1 AR c.3565_3571delCGAAGGC;p.(R1189Gfs*7) Hom Biparental P 42
EYE64 RPGRIP1 AR c.3565_3571delCGAAGGC;p.(R1189Gfs*7) Hom Biparental P 42
EYE65 RPGRIP1 AR c.3565_3571delCGAAGGC;p.(R1189Gfs*7) Hom Biparental P 42
EYE55a EYE55 RPGRIP1 AR c.1467+1G > T Het Paternal P 11
Exon 17 deletion (c.2710 + 374_2895 + 74del) Het Maternal P 11,25
LCA1Ha Twin 1 GUCY2D AR c.2113 + 2_2113 + 3insT Het Paternal P 10
c.2714 T > C;p.(L905P) Het Maternal P 10
Twin 2 GUCY2D AR c.2113 + 2_2113 + 3insT Het Paternal P 10
c.2714T > C;p.(L905P) Het Maternal P 10

aMutation analyses for families EYE20, EYE55, and LCA1H were reported previously10,11.

bSee Supp. Figure 2 for sequencing electropherogram data.

cDNA was unavailable for the patient’s father, as he was deceased.

NA, not available; Hom, homozygous; Het, heterozygous; Hemi, hemizygous; P, pathogenic; L.P, likely pathogenic; AD, autosomal dominant; AR, autosomal recessive; XL, X-linked.