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. 2019 Sep 30;20(19):4854. doi: 10.3390/ijms20194854

Table 2.

Summary of 58 patients carrying pathogenic and likely pathogenic mutations in known CCRD genes or other retinal disease genes.

ID Type Gene Allele Status cDNA Protein References
Known CCRD genes
CIC00137 sporadic ABCA4 Ho 47 c.6394G>A p.(E2132K) (Boulanger-Scemama et al. 2015)
CIC00162 Ar ABCA4 Het 31 c.4546_4547del p.(Q1516Afs*38) (Boulanger-Scemama et al. 2015)
ABCA4 Het 16 c.2463G>A p.(W821*) (Boulanger-Scemama et al. 2015)
CIC00765 Ar ABCA4 Ho 47 c.6445C>T p.(R2149*) (Lewis et al. 1999)
(rs61750654)
CIC03436 Ar ABCA4 Ho 42 c.5892del p.(G1965Efs*9) [1]
CIC04412 sporadic ABC4A Het 34 c.4793C>A p.(A1598D) (Maugeri et al. 2000)
(rs61750155)
ABCA4 Het 28 c.4234C>T p.(Q1412*) (Maugeri et al. 2000)
(rs61750137)
CIC04645 Ar ABCA4 Ho 13 c.1924T>C p.(F642L) (Boulanger-Scemama et al. 2015), but c.1924T>A p.F642I in (Jin et al. 2014)
CIC05087 sporadic ABCA4 Ho IVS 11 c.1554+1G>C r.(spl?) (Boulanger-Scemama et al. 2015)
CIC05853 sporadic ABC4A Ho 22 c.3259G>A p.(E1087K) (Allikmets et al. 1997)
(rs61751398)
CIC05854 Ar ABC4A Ho 35 c.4919G>A p.(R1640Q) (Simonelli et al. 2000)
(rs61751403)
CIC05987 Ar ABC4A Het 22 c.3295T>C p.(S1099P) (Fumagalli et al. 2001)
(rs61750119)
ABC4A Het 4 c.327dup p.(Q110Sfs*51) (Boulanger-Scemama et al. 2015)
(rs 61748531)
CIC05989 sporadic ABC4A Het 34 c.4837G>A p.(D1613N) (Boulanger-Scemama et al. 2015)
ABC4A Het 10 c.1302del p.(Q437Rfs*12) (Boulanger-Scemama et al. 2015)
ABCA4 Het 38 c.5318C>T p.(A1773V) (Stenirri et al. 2008)
CIC06170 sporadic ABC4A Het 44 c.6089G>A p.(R2030Q) (Lewis et al. 1999)
(rs61750641)
ABC4A Het IVS 24 c.3607+3A>T r.(spl?) (Boulanger-Scemama et al.2015)
ABCA4 Het 14 c.2034G>T p.(K678N) (Huang et al. 2014)
CIC06694 sporadic ABC4A Het IVS36 c.5196+1G>A r.(spl?) (Kitiratschky et al. 2008)
ABC4A Het 22 c.3322C>T p.(R1108C) (Briggs et al. 2001)
CIC06735 Ar ABC4A Ho 42 c.5892del p.(G1965Efs*9) [1]
CIC06913 Ar ABCA4 Ho 21 c.3056C>T p.(T1019M) (Rozet et al. 1998)
(rs201855602)
CIC04239 Ar CDHR1 Ho 9 c.838C>T p.(R280*) (Boulanger-Scemama et al. 2015)
CIC06568 Ar CERKL Ho 8 c.1090C>T p.(R364*) Thesis (Sergouniotis P. 2012) [2]
CIC07299 sporadic PDE6C Ho 2 c.542del p.(A181Efs*13) (Boulanger-Scemama et al. 2015)
CIC05563 Ad SEMA4A Het 4 c.302T>C p.(I101T) (Boulanger-Scemama et al. 2015)
(rs149652495)
CIC07563 sporadic SEMA4A Ho 3 c.241C>T p.(R81*) (Boulanger-Scemama et al. 2015)
CIC00324 Ad GUCY2D Het 13 c.2512C>T p.(R838C) (Kelsell et al. 1998)
(rs61750172)
CIC03249 Ad GUCY2D Het 13 c.2512C>T p.(R838C) (Kelsell et al. 1998)
(rs61750172)
CIC04347 Ad GUCY2D Het 13 c.2512C>T p.(R838C) (Kelsell et al. 1998)
(rs61750172)
CIC04918 Ad GUCY2D Het 13 c.2512C>T p.(R838C) (Kelsell et al. 1998)
(rs61750172)
CIC00597 sporadic GUCY2D Het 14 c.2747T>C p.(I916T) (De Castro-Miró et al. 2014)
CIC06352 sporadic GUCA1A Het 3 c.149C>T p.(P50L) (Downes et al. 2001)
(rs104893968)
CIC06757 Ad PRPH2 Het 1 c.514C>T p.(R172W) (Wells et al. 1993)
(rs61755792)
CIC03621 Ad PRPH2 Het 1 c.1-c581+?del - (Boulanger-Scemama et al. 2015)
CIC00535 Ad PROM1 Het 10 c.1117C>T p.(R373C) (Michaelides et al. 2006)
(rs137853006)
CIC01196 sporadic PROM1 Ho 12 c.1354dup p.(Y452Lfs*13) (Pras et al. 2009)
CIC07188 sporadic PROM1 Het 12 c.1354dup p.(Y452Lfs*13) (Pras et al. 2009)
PROM1 Het IVS 12 c.1454+2T>C r.(spl?) (Boulanger-Scemama et al. 2015)
CIC07045 sporadic PROM1 Ho IVS 17 c.1984-1G>T r.(spl?) (Boulanger-Scemama et al. 2015)
(rs373680665)
CIC06642 Ad PROM1 Het 1 c.7dup p.(L3Pfs*28) (Boulanger-Scemama et al. 2015)
CIC04965 Ad CRX Het 4 c.608_609del p.(S203Ffs*32) (Boulanger-Scemama et al. 2015)
CIC03241 sporadic CRX Het 4 c.564dup p.(A189Rfs*47) Not clear if same mutation as in (Stone 2007)
CIC3750 sporadic CRX Het 3 c.121C>T p.(R41W) (Swain et al. 1997)
(rs104894672)
CIC05218 Ar PDE6C Ho IVS 10 c.1413+3A>T r.(spl?) (Boulanger-Scemama et al. 2015)
CIC02712 sporadic PDE6C Het 10 c.1325T>A p.(M442K) (Boulanger-Scemama et al. 2015)
PDE6C Het 10 c.1375C>G p.(Q459E) (Boulanger-Scemama et al. 2015)
CIC06321 sporadic RPGRIP1 Ho 14 c.2021C>A p.(P674H) (Boulanger-Scemama et al. 2015)
CIC00190 sporadic AIPL1 Het 5 c.769C>T p.(L257F) (Boulanger-Scemama et al. 2015)
AIPL1 Het 5 c.767T>G p.(I256S) (Boulanger-Scemama et al. 2015)
CIC04945 sporadic PROM1 Het 23 c.2383T>C p.(W795R) (Boulanger-Scemama et al. 2015)
PROM1 Het IVS 13 c.1579-1G>C r.(spl?) (Boulanger-Scemama et al. 2015)
CIC07569 sporadic CRX Het IVS 3 c.252+1G>A r.(spl?) (Boulanger-Scemama et al. 2015)
Other retinal disease genes
CIC01571 Ar C2Orf71 Ho 1 c.2950C>T p.(R984*) (Audo et al. 2011) (RP)
CIC00643 Ar C2Orf71 Ho 1 c.1949G>A p.(W650*) (Boulanger-Scemama et al. 2015)
(rs371289954)
CIC03112 Ar MERTK Ho 17 c.2214del p.(C738Wfs*32) (Tschernutter et al. 2006) (RP)
CIC01242 Ar MERTK Ho 3_19 c.483-?_c.3000+?del - (Boulanger-Scemama et al. 2015)
CIC06514 Ar RLBP1 Ho 7_9 c.526-?_c.954+?del - (Boulanger-Scemama et al. 2015)
CIC03953 sporadic EYS Het 11 c.1673G>A p.(W558*) (Audo et al. 2010)
(RP)
(rs201823777)
EYS Het 14 c.2234A>G p.(N745S) (Audo et al. 2010)
(RP)
(rs201652272)
CIC05012 sporadic NMNAT1 Het 5 c.619C>T p.(R207W) (Perrault et al. 2012) (LCA)
(rs142968179)
NMNAT1 Het 5 c.769G>A p.(E257K) (Chiang et al. 2012)
(LCA)
(rs150726175)
CIC06499 sporadic NMNAT1 Het 5 c.619C>T p.(R207W) (Perrault et al. 2012) (LCA)
(rs142968179)
NMNAT1 Het 5 c.769G>A p.(E257K)
CIC05394 Ar RDH12 Ho 8 c.806_810del p.(A269Gfs*2) (Janecke et al. 2004)
(LCA)
(rs386834261)
CIC07241 Ar RDH12 Ho 7 c.464C>T p.(T155I) (Thompson et al. 2005) (LCA)
(rs121434337)
CIC07447 Ar RDH12 Het 8 c.806_810del p.(A269Gfs*2) (Janecke et al. 2004)
(LCA)
(rs386834261))
RDH12 Het 8 c.403A>G p.(K135E) (Boulanger-Scemama et al. 2015)
CIC00953 sporadic IQCB1 Het 6 c.424_425del p.(F142Pfs*5) (Otto et al. 2005)
(Senior-Loken/LCA)
IQCB1 Het 8 c.686del p.(T229Mfs*8) (Boulanger-Scemama et al. 2015)
CIC01300 Ar RP1 Ho 4 c.1719_1723del p.(S574Cfs*7) (El Shamieh et al. 2015)
(arRP)
CIC01380 Ar CRB1 Ho 11 c.3994T>G p.(C1332G) (Boulanger-Scemama et al. 2015) (LCA)
CIC00963 Ar TULP1 Ho 11 c.1087G>A p.(G363R) (Boulanger-Scemama et al. 2015) (LCA and arRP)
Lower confidence
CIC05007 Ad ROM1 Het 1 c.339del p.(L114Sfs*8) (Boulanger-Scemama et al. 2015) (adRP)

Ar: autosomal recessive; Ad: autosomal dominant; RP: retinitis pigmentosa; MD: macular dystrophy; LCA: Leber congenital amaurosis; [1] personal communication B. Puech. [2] Sergouniotis P. (2012). Genotype and phenotypic heterogeneity in autosomal recessive retinal disease. Ph.D. Thesis. Institute of Ophthalmology, University College London, United Kingdom.