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. 2017 Dec 29;12:49–63. doi: 10.2147/OPTH.S147684

Table 2.

Pathogenic and probable pathogenic variants in known disease-causing genes identified in subjects in this study

Subject Dx Gene Nucleotide change Protein change dbSNP Reference
JB260 Stargardt ABCA4 c.6119G>A p.Arg2040Gln rs148460146 Zernant et al (2014)50
c.2879del p.Ala960Aspfs*17 N/A
JB333 Stargardt ABCA4 c.4363T>C p.Cys1455Arg rs758835368 Fujinami et al (2013)51
c.4666del p.Arg1556Glyfs*25 N/A
JB358 Stargardt ABCA4 c.2588G>C p.Gly863Ala rs76157638 Maugeri et al (2000)52
c.3984_3987del p.His1328Glnfs*60 N/A
JB16 Stargardt ABCA4 c.5917del p.Val1973* rs61751389 Kitiratschky et al (2008)53
c.5917del p.Val1973* rs61751389 Kitiratschky et al (2008)53
JB320 Stargardt ABCA4 c.1749G>C p.Lys583Asn rs145265791 Fujinami et al (2013)51
c.4594G>A p.Asp1532Asn rs62642574 Briggs et al (2001)54
JB249 LCA AIPL1 c.834G>A p.Trp278* rs62637014 Sohocki et al (2000)55
c.404_405insA p.Glu135fs*23 N/A
JB319 RP (BBS) BBS4 c.513_514insA p.Ile172Asnfs*18 rs779047261 Mykytyn et al (2001)26
c.883C>G p.Arg295Gly N/A Priya et al (2016)27
JB42 ADRP CA4 c.761A>C p.Gln254Pro rs150432787 Yang et al (2005)49
JB165 LCA CEP290 c.2991+1655A>G Splice mutation rs281865192 den Hollander et al (2006)41
c.3461+2TA>GT Splice mutation N/A
JB290 LCA CEP290 c.2390del p.Lys797Serfs*2 rs781670422 Cideciyan et al (2011)56
c.2390del p.Lys797Serfs*2 rs781670422 Cideciyan et al (2011)56
JB9 Retinal degeneration (Batten disease) CLN3 c.597C>A p.Tyr199* rs267606737 Sarpong et al (2009)57
c.597C>A p.Tyr199* rs267606737 Sarpong et al (2009)57
JB255 LCA (Batten disease) CLN3 c.883G>A CNV suspected~ p.Glu295Lys rs121434286 Munroe et al (1997)58
JB426 CORD (achromatopsia) CNGB3 c.1148del p.Thr383Ilefs*13 rs397515360 Kohl et al (2005)59
c.1306A>C p.Ser436Arg rs748354081
JB274 LCA CRB1 c.2300T>C p.Leu767Pro N/A
c.2300T>C p.Leu767Pro N/A
JB375 RP CRB1 c.1576C>T p.Arg526* rs114342808 Seong et al (2008)60
c.1429G>A p.Gly477Arg rs866822473 Abu-Safieh et al (2013)61
JB402 LCA CRB1 c.2843G>A p.Cys948Tyr rs62645748 den Hollander et al (1999)62
c.3988G>T p.Glu1330* N/A
JB38 RP FAM161A c.1355_1356del p.Thr452Serfs*3 rs397704718 Bandah-Rozenfeld et al (2010)63
c.1355_1356del p.Thr452Serfs rs397704718 Bandah-Rozenfeld et al (2010)63
JB301 Achromatopsia GNAT2 c.896C>A p.Ala299Glu N/A Nishiguchi et al (2005),32 Jobling et al (2013),33 and Kuniyoshi et al (2016)34
c.720+2T>C Splice mutation N/A
JB324 Usher GPR98 c.14767del p.Thr4923Profs*8 rs747459491 Weston et al (2004)28
c.17668_17669del p.Met5890Valfs*10 rs757696771
JB185 Cone dystrophy (ad) GUCA1A c.296A>G p.Tyr99Cys rs104893967 Payne et al (1998)14
JB282 LCA GUCY2D c.2080C>T p.Gln694* rs61750164 Eisenberger et al (2013)64
c.1009_1010insCAGCAGCT p.Asp337Alafs*61 (p.Pro335_Ser336 insSer in cis)
JB307 Cone dystrophy KIF7 c.A2501A>G p.Gln834Arg rs138354681 Putoux et al (2011)20
c.3345C>G p.His1115Gln rs142032413 Putoux et al (2011)20
JB32 RP NR2E3 c.119-2A>C Splice mutation rs2723341 Bandah et al (2009)65
c.932G>A p.Arg311Gln rs28937873 Haider et al (2000)66
JB181 Nanophthalmos, maculopathy NR2E3 c.767C>A p.Ala256Glu rs377257254 Sharon et al (2003)67
c.119-2A>C Splice mutation rs2723341 Bandah et al (2009)65
JB48 RP (ad) NR2E3 c.166G>A p.Gly56Arg rs121912631 Coppieters et al (2007)68
JB275 LCA (ad retinal degeneration) OTX2 c.527del p.Pro177* N/A
JB28 LCA (EORD) PDE6A c.1705C>A p.Gln569Lys rs139444207 Dryja et al (1999)69
c.1620+2T>A Splice mutation
JB33 ADRP PRPF31 c.590T>C p.Leu197Pro N/A
JB310 LCA PRPH2 c.522G>A p.Trp174* N/A
c.522G>A p.Trp174* N/A
JB167 AD retinal degeneration PRPH2 c.136C>T p.Arg46* rs61755771
JB46 CORD PRPH2 c.514C>T p.Arg172Trp rs61755792 Conley et al (2014),42 Meins et al (1993),43 Wroblewski et al (1994),44 and Wang et al (2013)45
JB284 LCA PROM1 c.2050C>T p.R684* rs530749007
c.2050C>T p.R684* rs530749007
JB44 ADRP RP1 c.2029C>T p.Arg677* rs104894082 Payne et al (2000)70
JB372 RP RP1L1 c.1138G>A p.Gly380Arg rs184332984 Tiwari et al (2016) (for macular dystrophy)71
c.1138G>A p.Gly380Arg rs184332984 Tiwari et al (2016) (for macular dystrophy)71
JB47 RP RP1L1 c.1270A>T p.Lys424* rs770463388
c.1270A>T p.Lys424* rs770463388
JB283 LCA RPE65 c.1067_1068insA p.Asn356Lysfs*9 rs766074572
c.1067_1068insA p.Asn356Lysfs*9 rs766074572
JB357 LCA RPE65 c.1249G>C p.Glu417Gln rs62636299 Simovich et al (2001)72
c.1102T>C p.Tyr368His rs62653011 Yzer et al (2003)73
JB285 LCA RPGRIP1 c.767C>G p.Ser256* N/A
c.1084_1087del p.Arg363Leufs*11 N/A
JB124 LCA RPGRIP1 c.1180C>T p.Gln394* N/A
c.1180C>T p.Gln394* N/A
JB43 RP RPGRIP1L c.171G>T p.Leu57Phe rs146925098
c.628A>G p.Asn210Asp rs146584570
JB41 RP USH2A c.1036A>C p.Asn346His rs369522997 Weston et al (2000)74
c.13335_13337del p.Glu4445_Asn4446delinsAsp rs775556188
JB49 RP USH2A c.13297G>T p.Val4433Leu (benign?) rs111033381 Dreyer et al (2008)75
c.6713A>C p.Glu2238Ala rs41277212 Aller et al (2006)77 and McGee et al (2010)76
JB252 Usher USH2A c.13207_13208del p.Gly4403Profs*15 rs746447649 Le Quesne Stabej et al (2012)78
c.2299del p.Glu767Serfs*21 rs80338903 Eudy et al (1998),79 and Weston et al (2000)74

Note: Only variants that completely explain the disease phenotype have been included in this table.

Abbreviations: ADRP, autosomal dominant retinitis pigmentosa; BBS, Bardet–Biedl syndrome; CORD, cone–rod dystrophy; dbSNP, database of single nucleotide polymorphisms; Dx, diagnosis; EORD, early-onset retinal degeneration; LCA, Leber’s congenital amaurosis; NA, not applicable; RP, retinitis pigmentosa.