The Alter Retina: Alternative Splicing of Retinal Genes in Health and Disease
Abstract
:1. Introduction
2. Alternative Splicing of Retinal Genes
2.1. Alternative Splicing in the Retina
2.2. Novel Approaches to Detect Alternative Splicing Events
2.3. Implications of Retinal Alternative Splicing in Functional Analyses of IRD Genes
2.4. Splicing Factors Involved in the Processing of Retinal Transcripts
2.5. Regulation of the Splicing
2.5.1. Trans-Regulatory Elements: RNA-Binding Proteins
2.5.2. Cis-Regulatory Elements: Enhancers and Silencers
3. The Role of Alternative Splicing in Retinal Disease
3.1. Trans-Acting Mutations in Splicing Factors: PRPF31
3.2. Cis-Acting Mutations Altering the Splicing
3.2.1. Non-Canonical Splice Site Variants (NCSS): ABCA4
3.2.2. Deep Intronic Variants: ABCA4, CEP290 and USH2A
3.2.3. Deep Exonic Variants: RHO
3.3. Mutations in Retina-Specific Exons and Microexons: BBS8, RPGR and DYNC2H1
4. Therapeutic Strategies to Modulate Aberrant Splicing
5. Conclusions
Author Contributions
Funding
Acknowledgments
Conflicts of Interest
References
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Gene | Location | Associated Disease | Splice Variants | Coding Transcripts |
---|---|---|---|---|
ABCA4 | 1p22.1 | Recessive Stargardt disease, juvenile and late onset; recessive macular dystrophy; recessive retinitis pigmentosa; recessive fundus flavimaculatus; recessive cone-rod dystrophy | 8 | 3 |
ABCC6 | 16p13.11 | Recessive pseudoxanthoma elasticum; dominant pseudoxanthoma elasticum | 9 | 4 |
ABHD12 | 20p11.21 | Recessive syndromic PHARC; recessive Usher syndrome, type 3-like | 24 | 17 |
ACBD5 | 10p12.1 | Recessive cone-rod dystrophy with psychomotor delay | 8 | 7 |
ACO2 | 22q13.2 | Recessive optic atrophy; recessive cerebellar degeneration with optic atrophy | 7 | 2 |
ADAM9 | 8p11.23 | Recessive cone-rod dystrophy | 9 | 3 |
ADAMTS18 | 16q23.1 | Recessive Knobloch syndrome; recessive retinal dystrophy, early onset | 9 | 3 |
ADGRA3 | 4p15.2 | Recessive retinitis pigmentosa | 13 | 4 |
ADGRV1 | 5q14.3 | Recessive Usher syndrome, type 2; dominant/recessive febrile convulsions | 37 | 10 |
ADIPOR1 | 1q32.1 | Recessive retinitis pigmentosa, syndromic, Bardet-Biedl like; dominant retinitis pigmentosa | 5 | 4 |
AFG3L2 | 18p11.21 | Dominant optic atrophy, non-syndromic; dominant spinocerebellar ataxia; recessive spastic ataxia | 4 | 2 |
AGBL5 | 2p23.3 | Recessive retinitis pigmentosa | 10 | 7 |
AHI1 | 6q23.3 | Recessive Joubert syndrome | 17 | 10 |
AHR | 7p21.1 | Recessive retinitis pigmentosa | 7 | 2 |
AIPL1 | 17p13.2 | Recessive Leber congenital amaurosis; dominant cone-rod dystrophy | 11 | 10 |
ALMS1 | 2p13.1 | Recessive Alström syndrome | 12 | 4 |
ARHGEF18 | 19p13.2 | Recessive retinitis pigmentosa | 6 | 5 |
ARL2BP | 16q13.3 | Recessive retinitis pigmentosa | 4 | 3 |
ARL3 | 10q24.32 | Dominant retinitis pigmentosa | 1 | 1 |
ARL6 | 3q11.2 | Recessive Bardet-Biedl syndrome; recessive retinitis pigmentosa | 9 | 6 |
ARMS2 | 10q26.13 | Age-related macular degeneration, complex etiology | 1 | 1 |
ARSG | 17q24.2 | Recessive Usher syndrome, atypical | 9 | 4 |
ASRGL1 | 11q12.3 | Recessive retinal degeneration | 11 | 6 |
ATF6 | 1q23.3 | Recessive achromatopsia | 2 | 1 |
ATOH7 | 10q21 | Recessive nonsyndromal congenital retinal nonattachment | 1 | 1 |
ATXN7 | 3p14.1 | Dominant spinocerebellar ataxia w/ macular dystrophy or retinal degeneration | 20 | 7 |
BBIP1 | 10q25.2 | Recessive Bardet-Biedl syndrome | 15 | 10 |
BBS1 | 11q13 | Recessive Bardet-Biedl syndrome; recessive retinitis pigmentosa | 25 | 7 |
BBS10 | 12q21.2 | Recessive Bardet-Biedl syndrome | 1 | 1 |
BBS12 | 4q27 | Recessive Bardet-Biedl syndrome | 3 | 3 |
BBS2 | 16q13 | Recessive Bardet-Biedl syndrome; recessive retinitis pigmentosa | 21 | 5 |
BBS4 | 15q24.1 | Recessive Bardet-Biedl syndrome | 18 | 5 |
BBS5 | 2q31.1 | Recessive Bardet-Biedl syndrome | 6 | 2 |
BBS7 | 4q27 | Recessive Bardet Biedl syndrome | 6 | 3 |
BBS8 | 14q31.3 | Recessive Bardet Biedl syndrome | 13 | 7 |
BBS9 | 7p14.3 | Recessive Bardet Biedl syndrome | 29 | 14 |
BEST1 | 11q12.3 | Dominant macular dystrophy, Best type; dominant vitreoretinochoroidopathy; recessive bestrophinopathy; recessive retinitis pigmentosa; dominant retinitis pigmentosa | 8 | 4 |
C12orf65 | 12q24.31 | Recessive spastic paraplegia, neuropathy and optic atrophy | 8 | 6 |
C1QTNF5 | 11q23.3 | Dominant macular dystrophy, late onset; dominant macular dystrophy with lens zonules | 4 | 3 |
C2 | 6p21.32 | Age-related macular degeneration, complex etiology | 17 | 11 |
C3 | 19p13.3 | Age-related macular degeneration, complex etiology | 18 | 5 |
C8orf37 | 8q22.1 | Recessive cone-rod dystrophy; recessive retinitis pigmentosa with early macular involvement; recessive Bardet-Biedl syndrome | 1 | 1 |
CA4 | 17q23.2 | Dominant retinitis pigmentosa | 6 | 4 |
CABP4 | 11q13.1 | Recessive congenital stationary night blindness; recessive congenital cone-rod synaptic disease; recessive Leber congenital amaurosis | 7 | 2 |
CACNA1F | Xp11.23 | X-linked congenital stationary night blindness, incomplete; AIED-like disease; severe congenital stationary night blindness; X-linked progressive cone-rod dystrophy | 6 | 4 |
CACNA2D4 | 12p13.33 | Recessive cone dystrophy | 26 | 9 |
CAPN5 | 11q13.5 | Dominant neovascular inflammatory vitreoretinopathy | 8 | 5 |
CC2D2A | 4p15.33 | Recessive retinitis pigmentosa and mental retardation; recessive Joubert syndrome | 23 | 13 |
CCT2 | 12q15 | Recessive Leber congenital amaurosis | 14 | 3 |
CDH23 | 10q22.1 | Recessive Usher syndrome, type 1d; recessive deafness without retinitis pigmentosa; digenic Usher syndrome with PCDH15 | 19 | 14 |
CDH3 | 16q22.1 | Recessive macular dystrophy, juvenile with hypotrichosis | 10 | 4 |
CDHR1 | 10q23.1 | Recessive cone-rod dystrophy | 7 | 4 |
CEP164 | 11q23.3 | Recessive nephronophthisis with retinal degeneration | 14 | 7 |
CEP19 | 3q29 | Recessive Bardet-Biedl syndrome | 2 | 2 |
CEP250 | 20q11.22 | Recessive Usher syndrome, atypical | 14 | 8 |
CEP290 | 12q21.32 | Recessive Senior-Loken syndrome; recessive Joubert syndrome; recessive Leber congenital amaurosis; recessive Meckel syndrome | 34 | 13 |
CEP78 | 9q21.2 | Recessive cone-rod dystrophy with hearing loss; recessive Usher syndrome, atypical | 24 | 14 |
CERKL | 2q31.3 | Recessive retinitis pigmentosa; recessive cone-rod dystrophy with inner retinopathy | 14 | 5 |
CFAP410 | 21q22.3 | Recessive cone-rod dystrophy | 7 | 3 |
CFB | 6p21.32 | Age-related macular degeneration, complex etiology | 14 | 4 |
CFH | 1q31.3 | Age-related macular degeneration, complex etiology; recessive drusen, early-onset | 6 | 3 |
CHM | Xq21.2 | Choroideremia | 5 | 2 |
CIB2 | 15q25.1 | Recessive Usher syndrome, type 1J | 10 | 7 |
CISD2 | 4q22-q24 | Recessive Wolfram syndrome | 5 | 2 |
CLCC1 | 1p13.3 | Recessive retinitis pigmentosa, severe | 30 | 21 |
CLN3 | 16p11.2 | Recessive Batten disease (ceroid-lipofuscinosis, neuronal 3), juvenile | 62 | 20 |
CLRN1 | 3q25.1 | Recessive Usher syndrome, type 3; recessive retinitis pigmentosa | 8 | 4 |
CLUAP1 | 16p13.3 | Recessive Leber congenital amaurosis | 12 | 7 |
CNGA1 | 4p12 | Recessive retinitis pigmentosa | 7 | 6 |
CNGA3 | 2q11.2 | Recessive achromatopsia; recessive cone-rod dystrophy; protein: cone photoreceptor cgmp-gated cation channel alpha subunit [Gene] | 4 | 2 |
CNGB1 | 16q21 | Recessive retinitis pigmentosa | 9 | 6 |
CNGB3 | 8q21.3 | Recessive achromatopsia Pingelapese; recessive progressive cone dystrophy | 3 | 2 |
CNNM4 | 2q11.2 | Recessive cone-rod dystrophy and amelogenesis imperfecta syndrome | 4 | 1 |
COL11A1 | 1p21.1 | Dominant Stickler syndrome, type II; dominant Marshall syndrome | 14 | 10 |
COL2A1 | 12q13.11 | Dominant Stickler syndrome, type I; dominant bone dysplasias, developmental disorders, osteoarthritic diseases, and syndromic disorders | 9 | 2 |
COL9A1 | 6q13 | Recessive Stickler syndrome; dominant multiple epiphyseal dysplasia (MED) | 11 | 3 |
CRB1 | 1q31.3 | Recessive retinitis pigmentosa with para-arteriolar preservation of the RPE (PPRPE); recessive retinitis pigmentosa; recessive Leber congenital amaurosis; dominant pigmented paravenous chorioretinal atrophy | 11 | 7 |
CRX | 19q13.32 | Dominant cone-rod dystrophy; recessive, dominant and de novo Leber congenital amaurosis; dominant retinitis pigmentosa | 7 | 4 |
CSPP1 | 8q13.1-q13.2 | Recessive Jobert syndrome | 16 | 8 |
CTNNA1 | 5q31.2 | Dominant macular dystrophy, butterfly-shaped | 44 | 27 |
CWC27 | 5q12.3 | Retinitis pigmentosa with or without skeletal anomalies | 5 | 2 |
CYP4V2 | 4q35.2 | Recessive Bietti crystalline corneoretinal dystrophy; recessive retinitis pigmentosa | 4 | 1 |
DHDDS | 1p36.11 | Recessive retinitis pigmentosa | 25 | 16 |
DHX38 | 16q22.2 | Recessive retinitis pigmentosa, early onset with macular coloboma | 14 | 6 |
DMD | Xp21.2-p21.1 | Oregon eye disease (probably) | 32 | 20 |
DNM1L | 22q12.1-q13.1 | Dominant optic atrophy | 30 | 11 |
DRAM2 | 1p13.3 | Recessive macular dystrophy, early adult onset | 11 | 2 |
DTHD1 | 4p14 | Recessive Leber congenital amaurosis with myopathy | 6 | 4 |
DYNC2H1 | 11q22.3 | Syndromic and non syndromic retinal degeneration | 11 | 5 |
EFEMP1 | 2p16.1 | Dominant radial, macular drusen; dominant Doyne honeycomb retinal degeneration (Malattia Leventinese) | 14 | 10 |
ELOVL1 | 1p34.2 | Dominant optic atrophy, deafness, ichthyosis and neuronal disorders | 16 | 3 |
ELOVL4 | 6q14.1 | Dominant macular dystrophy, Stargardt-like; recessive spinocerebellar ataxia; recessive ichthyosis, quadriplegia and retardation | 1 | 1 |
EMC1 | 1p36.13 | Recessive retinitis pigmentosa | 13 | 5 |
ERCC6 | 10q11.23 | Age-related macular degeneration, complex etiology; Cockayne syndrome, recessive | 12 | 4 |
ESPN | 1p36.31 | Recessive Usher syndrome | 17 | 14 |
EXOSC2 | 9q34.12 | Recessive retinitis pigmentosa with hearing loss and additional disabilities | 11 | 6 |
EYS | 6q12 | Recessive retinitis pigmentosa | 11 | 5 |
FAM161A | 2p15 | Recessive retinitis pigmentosa | 7 | 2 |
FBLN5 | 14q32.12 | Familial macular dystrophy, age-related | 9 | 4 |
FLVCR1 | 1q32.3 | Recessive retinitis pigmentosa with posterior column ataxia (PCARP) | 5 | 2 |
FSCN2 | 17q25.3 | Dominant retinitis pigmentosa; dominant macular dystrophy | 3 | 2 |
FZD4 | 11p13-p12 | Dominant familial exudative vitreoretinopathy | 1 | 1 |
FZD4 | 11q14.2 | Dominant familial exudative vitreoretinopathy | 1 | 1 |
GDF6 | 8q22.1 | Recessive Leber congenital amaurosis; dominant Klippel-Feil syndrome; dominant microphthalmia | 3 | 3 |
GNAT1 | 3p21.31 | Dominant congenital stationary night blindness, Nougaret type; recessive congenital stationary night blindness | 5 | 3 |
GNAT2 | 1p13.3 | Recessive achromatopsia | 2 | 2 |
GNB3 | 12p13.31 | Recessive congenital stationary night blindness | 10 | 6 |
GNPTG | 16p13.3 | Recessive retinitis pigmentosa and skeletal abnormalities; recessive mucolipidosis III gamma | 9 | 3 |
GPR179 | 17q12 | Recessive complete congenital stationary night blindness | 1 | 1 |
GRK1 | 13q34 | Recessive congenital stationary night blindness, Oguchi type | 3 | 1 |
GRM6 | 5q35.3 | Recessive congenital stationary night blindness | 6 | 3 |
GUCA1A | 6p21.1 | Dominant cone dystrophy; dominant cone-rod dystrophy | 2 | 2 |
GUCA1B | 6p21.1 | Dominant retinitis pigmentosa; dominant macular dystrophy | 1 | 1 |
GUCY2D | 17p13 | Dominant central areolar choroidal dystrophy | 2 | 1 |
GUCY2D | 17p13.1 | Recessive Leber congenital amaurosis; dominant cone-rod dystrophy | 2 | 1 |
HARS1 | 5q31.3 | Recessive Usher syndrome | 30 | 13 |
HGSNAT | 8p11.21-p11.1 | Recessive retinitis pigmentosa, non-syndromic; recessive mucopolysaccharidosis | 10 | 4 |
HK1 | 10q22.1 | Dominant retinitis pigmentosa; recessive nonspherocytic hemolytic anemia; recessive hereditary neuropathy (Russe type) | 18 | 10 |
HMCN1 | 1q25.3-q31.1 | Dominant macular dystrophy, age-related | 5 | 2 |
HMX1 | 4p16.1 | Recessive oculoauricular syndrome | 2 | 2 |
HTRA1 | 10q26.13 | Age-related macular degeneration, complex etiology | 3 | 3 |
IDH3B | 20p13 | Recessive retinitis pigmentosa | 12 | 4 |
IFT140 | 16p13.3 | Recessive Mainzer-Saldino syndrome; recessive retinitis pigmentosa; recessive Leber congenital amaurosis | 11 | 5 |
IFT172 | 2p33.3 | Recessive Bardet-Biedl syndrome; recessive retinitis pigmentosa | 34 | 6 |
IFT27 | 22q12.3 | Recessive Bardet-Biedl syndrome | 12 | 5 |
IFT81 | 12q24.11 | Recessive cone-rod dystrophy; recessive spectrum of ciliopathies including retinal dystrophy | 9 | 4 |
IMPDH1 | 7q32.1 | Dominant retinitis pigmentosa; dominant Leber congenital amaurosis | 18 | 11 |
IMPG1 | 6q14.1 | Dominant macular dystrophy, vitelliform; recessive macular dystrophy, vitelliform; dominant retinitis pigmentosa | 4 | 4 |
IMPG2 | 3q12.3 | Recessive retinitis pigmentosa | 1 | 1 |
INPP5E | 9q34.3 | Recessive Joubert syndrome; recessive MORM syndrome | 6 | 3 |
INVS | 9q31.1 | Recessive Senior-Loken syndrome; recessive nephronophthisis | 7 | 3 |
IQCB1 | 3q13.33 | Recessive Senior-Loken syndrome; recessive Leber congenital amaurosis | 7 | 5 |
ITM2B | 13q14.2 | Dominant retinal dystrophy; dominant dementia, familial | 11 | 4 |
JAG1 | 20p12.2 | Dominant Alagille syndrome | 9 | 2 |
KCNJ13 | 2q37.1 | Dominant vitreoretinal degeneration, snowflake; recessive Leber congenital amaurosis | 5 | 5 |
KCNV2 | 9p24.2 | Recessive cone dystrophy with supernormal rod electroretinogram | 1 | 1 |
KIAA1549 | 7q34 | Recessive retinitis pigmentosa; protein: KIAA1549 protein | 2 | 2 |
KIF11 | 10q23.33 | Dominant microcephaly, lymphedema and chorioretinopathy | 1 | 1 |
KIZ | 20p11.23 | Recessive retinitis pigmentosa | 15 | 8 |
KLHL7 | 7p15.3 | Dominant retinitis pigmentosa | 13 | 5 |
LAMA1 | 18p11.31-p11.23 | Recessive retinal dystrophy and cerebellar dysplasia | 9 | 2 |
LCA5 | 6q14.1 | Recessive Leber congenital amaurosis | 3 | 3 |
LRAT | 4q32.1 | Recessive retinitis pigmentosa, severe early-onset; recessive Leber congenital amaurosis | 8 | 3 |
LRIT3 | 4q25 | Recessive congenital stationary night blindness | 2 | 2 |
LRP5 | 11q13.2 | Dominant familial exudative vitreoretinopathy; dominant high bone mass trait; recessive osteoporosis-pseudoglioma syndrome; recessive familial exudative vitreoretinopathy | 7 | 2 |
LZTFL1 | 3p21.31 | Recessive Bardet-Biedl syndrome with developmental anomalies | 16 | 5 |
MAK | 6p24.2 | Recessive retinits pigmentosa | 7 | 5 |
MAPKAPK3 | 3p21.2 | Dominant Martinique retinal dystrophy and retinitis pigmentosa | 8 | 6 |
MERTK | 2q13 | Recessive retinitis pigmentosa; recessive rod-cone dystrophy, early onset | 7 | 5 |
MFN2 | 1p36.22 | Dominant optic atrophy with neuropathy and myopathy; dominant Charcot-Marie-Tooth disease | 33 | 17 |
MFRP | 11q23.3 | Recessive microphthalmos and retinal disease syndrome; recessive nanophthalmos | 6 | 3 |
MFSD8 | 4q28.2 | Recessive macular dystrophy | 62 | 24 |
MKKS | 20p12.2 | Recessive Bardet-Biedl syndrome | 4 | 3 |
MKS1 | 17q22 | Recessive Bardet-Biedl syndrome; recessive Meckel syndrome | 13 | 7 |
MMP19 | 12q13.13-q14.3 | Dominant cavitary optic disc anomalies | 9 | 3 |
MT-ATP6 | mitochondrion | Retinitis pigmentosa with developmental and neurological abnormalities; Leigh syndrome; Leber hereditary optic neuropathy | 1 | 1 |
MT-TH | mitochondrion | Pigmentary retinopathy and sensorineural hearing loss | 1 | - |
MT-TL1 | mitochondrion | Macular pattern dystrophy with type II diabetes and deafness | 1 | - |
MT-TP | mitochondrion | Retinitis pigmentosa with deafness and neurological abnormalities | 1 | - |
MT-TS2 | mitochondrion | Retinitis pigmentosa with progressive sensorineural hearing loss | 1 | - |
MTTP | 4q23 | Recessive abetalipoproteinemia | 11 | 5 |
MVK | 12q24.11 | Recessive retinitis pigmentosa; recessive mevalonic aciduria; recessive hyper-igd syndrome | 17 | 10 |
MYO7A | 11q13.5 | Recessive Usher syndrome, type 1b; recessive congenital deafness without retinitis pigmentosa; recessive atypical Usher syndrome (USH3-like) | 14 | 8 |
NBAS | 2p24.3 | Recessive optic atrophy and retinal dystrophy, syndromic; | 9 | 7 |
NDP | Xp11.3 | Norrie disease; familial exudative vitreoretinopathy; Coats disease | 3 | 2 |
NEK2 | 1q32.3 | Recessive retinitis pigmentosa; protein: NIMA (never in mitosis gene A)-related kinase 2 [Gene] | 5 | 3 |
NEUROD1 | 2q31.3 | Recessive retinitis pigmentosa | 2 | 1 |
NMNAT1 | 1p36.22 | Recessive Leber congenital amaurosis | 5 | 3 |
NPHP1 | 2q13 | Recessive Senior-Loken syndrome; recessive nephronophthisis, juvenile; recessive Joubert syndrome; recessive Bardet-Biedl syndrome | 22 | 12 |
NPHP3 | 3q22.1 | Recessive Senior-Loken syndrome; recessive nephronophthisis, adolescent | 11 | 3 |
NPHP4 | 1p36.31 | Recessive Senior-Loken syndrome, recessive nephronophthisis | 11 | 2 |
NR2E3 | 15q23 | Recessive enhanced S-cone syndrome (ESCS); recessive retinitis pigmentosa in Portuguese Crypto Jews; recessive Goldmann-Favre syndrome; dominant retinitis pigmentosa; combined dominant and recessive retinopathy | 4 | 3 |
NR2F1 | 5q15 | Dominant optic atrophy with intellectual disability and developmental delay | 6 | 3 |
NRL | 14q11.2 | Dominant retinitis pigmentosa; recessive retinitis pigmentosa | 6 | 6 |
NYX | Xp11.4 | X-linked congenital stationary night blindness | 3 | 2 |
OAT | 10q26.13 | Recessive gyrate atrophy | 8 | 2 |
OFD1 | Xp22.2 | Jobert syndrome; orofaciodigital syndrome 1, Simpson-Golabi-Behmel syndrome 2; X-linked retinitis pigmentosa, severe | 9 | 4 |
OPA1 | 3q29 | Dominant optic atrophy, Kjer type; dominant optic atrophy with sensorineural hearing loss | 32 | 14 |
OPA3 | 19q13.32 | Recessive optic atrophy with ataxia and 3-methylglutaconic aciduria; dominant optic atrophy with cataract, ataxia and areflexia | 3 | 3 |
OPN1LW | Xq28 | Deuteranopia and rare macular dystrophy in blue cone monochromacy with loss of locus control element | 3 | 2 |
OPN1MW | Xq28 | Protanopia and rare macular dystrophy in blue cone monochromacy with loss of locus control element | 3 | 2 |
OPN1SW | 7q32.1 | Dominant tritanopia | 1 | 1 |
OTX2 | 14q22.3 | Dominant Leber congenital amaurosis and pituitary dysfunction; recessive microphthalmia; dominant pattern dystrophy | 11 | 11 |
PANK2 | 20p13 | Recessive HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and palladial degeneration); recessive Hallervorden-Spatz syndrome | 12 | 6 |
PAX2 | 10q24.31 | Dominant renal-coloboma syndrome | 9 | 6 |
PCARE | 2p23.2 | Recessive retinitis pigmentosa | 2 | 1 |
PCDH15 | 10q21.1 | Recessive Usher syndrome, type 1f; recessive deafness without retinitis pigmentosa; digenic Usher syndrome with CDH23 | 36 | 31 |
PCYT1A | 3q29 | Recessive cone-rod dystrophy with skeletal disease | 16 | 9 |
PDE6A | 5q33.1 | Recessive retinitis pigmentosa | 5 | 3 |
PDE6B | 4p16.3 | Recessive retinitis pigmentosa; dominant congenital stationary night blindness | 12 | 8 |
PDE6C | 10q23.33 | Recessive cone dystrophy, early onset; recessive complete and incomplete achromatopsia | 2 | 1 |
PDE6G | 17q25.3 | Recessive retinitis pigmentosa | 5 | 3 |
PDE6H | 12p12.3 | Recessive achromatopsia, incomplete | 1 | 1 |
PDZD7 | 10q24.31 | Recessive non-syndromic deafness | 9 | 7 |
PEX1 | 7q21.2 | Recessive Refsum disease, infantile form | 10 | 3 |
PEX2 | 8q21.13 | Recessive Refsum disease, infantile form | 6 | 5 |
PEX7 | 6q23.3 | Recessive Refsum disease, adult form | 3 | 3 |
PGK1 | Xq21.1 | Retinitis pigmentosa with myopathy | 6 | 2 |
PHYH | 10p13 | Recessive Refsum disease, adult form | 7 | 5 |
PITPNM3 | 17p13.2 | Dominant cone-rod dystrophy | 5 | 3 |
PLA2G5 | 1p36.13-p36.12 | Recessive benign fleck retina | 8 | 1 |
PLK4 | 4q28.2 | Recessive microcephaly, growth failure and retinopathy | 11 | 6 |
PNPLA6 | 19p13.2 | Recessive Boucher-Neuhauser syndrome with chorioretinal dystrophy | 25 | 14 |
POC1B | 12q21.33 | Recessive cone-rod dystrophy; recessive Joubert syndrome | 14 | 4 |
POC5 | 5q13.3 | Recessive syndromic disease with retinitis pigmentosa | 14 | 7 |
POMGNT1 | 1p34.1 | Recessive retinitis pigmentosa | 10 | 3 |
PRCD | 17q25.1 | Recessive retinitis pigmentosa | 13 | 2 |
PRDM13 | 6q16.2 | Dominant macular dystrophy, North Carolina type; dominant progressive bifocal chorioretinal atrophy | 2 | 1 |
PROM1 | 4p15.32 | Recessive retinitis pigmentosa with macular degeneration; dominant Stargardt-like macular dystrophy; dominant macular dystrophy, bull’s-eye; dominant cone-rod dystrophy | 22 | 11 |
PRPF3 | 1q21.2 | Dominant retinitis pigmentosa | 7 | 1 |
PRPF31 | 19q13.42 | Dominant retinitis pigmentosa | 9 | 6 |
PRPF4 | 9q32 | Dominant retinitis pigmentosa | 3 | 2 |
PRPF6 | 20q13.33 | Dominant retinits pigmentosa | 1 | 1 |
PRPF8 | 17p13.3 | Dominant retinitis pigmentosa | 16 | 5 |
PRPH2 | 6p21.1 | Dominant retinitis pigmentosa; dominant macular dystrophy; digenic RP with ROM1; dominant adult vitelliform macular dystrophy; dominant cone-rod dystrophy; dominant central areolar choroidal dystrophy; recessive LCA | 1 | 1 |
PRPS1 | Xq22.3 | Neuropathy, optic atrophy, deafness and retinitis pigmentosa | 25 | 10 |
RAB28 | 4p15.33 | Recessive cone-rod dystrophy | 8 | 7 |
RAX2 | 19p13.3 | Cone-rod dystrophy, isolated; age-related macular degeneration, isolated | 2 | 2 |
RB1 | 13q14.2 | Dominant germline or somatic retinoblastoma; benign retinoma; pinealoma; osteogenic sarcoma | 9 | 4 |
RBP3 | 10q11.22 | Recessive retinitis pigmentosa | 1 | 1 |
RBP4 | 10q23.33 | Recessive RPE degeneration | 4 | 4 |
RCBTB1 | 13q14.2 | Recessive syndromic and non-syndromic retinal dystrophy; dominant familial exudative vitreoretinopathy and Coats disease | 4 | 2 |
RD3 | 1q32.3 | Recessive Leber congenital amaurosis | 2 | 1 |
RDH11 | 14q24.1 | Recessive retinitis pigmentosa, syndromicxd | 11 | 6 |
RDH12 | 14q24.1 | Recessive Leber congenital amaurosis with severe childhood retinal dystrophy; dominant retinitis pigmentosaxd | 4 | 2 |
RDH5 | 12q13.2 | Recessive fundus albipunctatus; recessive cone dystrophy, late onset | 11 | 4 |
REEP6 | 19p13.3 | Recessive retinitis pigmentosa | 4 | 2 |
RGR | 10q23.1 | Recessive retinitis pigmentosa; dominant choroidal sclerosis | 18 | 9 |
RGS9 | 17q24.1 | Recessive delayed cone adaptation | 12 | 4 |
RGS9BP | 19q13.12 | Recessive delayed cone adaptation | 1 | 1 |
RHO | 3q22.1 | Dominant retinitis pigmentosa; dominant congenital stationary night blindness; recessive retinitis pigmentosa | 1 | 1 |
RIMS1 | 6q13 | Dominant cone-rod dystrophy | 20 | 16 |
RLBP1 | 15q26.1 | Recessive retinitis pigmentosa; recessive Bothnia dystrophy; recessive retinitis punctata albescens; recessive Newfoundland rod-cone dystrophy | 4 | 2 |
ROM1 | 11q12.3 | Dominant retinitis pigmentosa; digenic retinitis pigmentosa with PRPH2 | 5 | 4 |
RP1 | 8q12.1 | Dominant retinitis pigmentosa; recessive retinitis pigmentosa | 8 | 3 |
RP1L1 | 8p23.1 | Dominant occult macular dystrophy; recessive retinitis pigmentosa | 2 | 1 |
RP2 | Xp11.23 | X-linked retinitis pigmentosa; X-linked retinitis pigmentosa, dominant | 1 | 1 |
RP9 | 7p14.3 | Dominant retinitis pigmentosa | 4 | 2 |
RPE65 | 1p31.2 | Recessive Leber congenital amaurosis; recessive retinitis pigmentosa; dominant retinitis pigmentosa with choroidal involvement | 1 | 1 |
RPGR | Xp11.4 | X-linked retinitis pigmentosa, recessive; X-linked retinitis pigmentosa, dominant; X-linked cone dystrophy 1; X-linked atrophic macular dystrophy, recessive | 10 | 9 |
RPGRIP1 | 14q11.2 | Recessive Leber congenital amaurosis; recessive cone-rod dystrophy | 13 | 8 |
RPGRIP1L | 16q12.2 | Recessive Joubert syndrome; recesssive Meckel syndrome | 12 | 10 |
RS1 | Xp22.13 | Retinoschisis | 2 | 1 |
RTN4IP1 | 6q21 | Recessive optic atrophy, non-syndromic and syndromic | 4 | 2 |
SAG | 2q37.1 | Recessive Oguchi disease; recessive retinitis pigmentosa; dominant retinitis pigmentosa | 16 | 3 |
SAMD11 | 1p36.33 | Recessive retinitis pigmentosa | 17 | 13 |
SDCCAG8 | 1q43 | Recessive nephronophthisis, ciliopathy-related; recessive Bardet-Biedl syndrome | 11 | 3 |
SEMA4A | 1q22 | Dominant retinitis pigmentosa; dominant cone-rod dystrophy | 16 | 9 |
SLC24A1 | 15q22.31 | Recessive congenital stationary night blindness | 12 | 7 |
SLC25A46 | 5q22.1 | Recessive syndromic optic atrophy; protein | 8 | 5 |
SLC38A8 | 16q23.2-q24.2 | Recessive foveal hypoplasia and anterior segment dysgenesis | 4 | 3 |
SLC7A14 | 3q26.2 | Recessive retinitis pigmentosa | 2 | 1 |
SNRNP200 | 2q11.2 | Dominant retinitis pigmentosa | 9 | 2 |
SPATA7 | 14q31.3 | Recessive Leber congenital amaurosis; recessive RP, juvenile | 22 | 8 |
SPP2 | 2q37.1 | Dominant retinitis pigmentosa | 4 | 3 |
TEAD1 | 11p15.3 | Dominant atrophia areata | 6 | 5 |
TIMM8A | Xq22.1 | Optic atrophy with deafness-dystonia syndrome | 4 | 2 |
TIMP3 | 22q12.3 | Dominant Sorsby’s fundus dystrophy | 1 | 1 |
TLR3 | 4q35.1 | Age-related macular degeneration, complex etiology | 5 | 3 |
TLR4 | 9q33.1 | Age-related macular degeneration, complex etiology | 4 | 3 |
TMEM126A | 11q14.1 | Recessive non-syndromic optic atrophy | 6 | 3 |
TMEM216 | 11q12.2 | Recessive Joubert syndrome; recessive Meckel syndrome | 5 | 2 |
TMEM237 | 2q33.1 | Recessive Jobert syndrome | 13 | 3 |
TOPORS | 9p21.1 | Dominant retinitis pigmentosa | 2 | 2 |
TREX1 | 3p21.31 | Dominant retinal vasculopathy with cerebral leukodystrophy; dominant Aicardi-Goutiere syndrome 1, dominant chilblain lupus | 6 | 6 |
TRIM32 | 9q33.1 | Recessive Bardet-Biedl syndrome; recessive limb-girdle muscular dystrophy | 3 | 3 |
TRNT1 | 3p26.2 | Recessive retinitis pigmentosa with erythrocytic microcytosis; recessive retinitis pigmentosa, non-syndromic | 20 | 7 |
TRPM1 | 15q13.3 | Recessive congenital stationary night blindness, complete | 12 | 7 |
TSPAN12 | 7q31.31 | Dominant familial exudative vitreoretinopathy | 7 | 6 |
TTC8 | 14q32.11 | Recessive Bardet-Biedl syndrome; recessive retinitis pigmentosa | 13 | 7 |
TTLL5 | 14q24.3 | Recessive cone and cone-rod dystrophy | 22 | 7 |
TTPA | 8q12.3 | Recessive retinitis pigmentosa and/or recessive or dominant ataxia | 2 | 1 |
TUB | 11p15.4 | Recessive retinal dystrophy and obesity | 3 | 3 |
TUBGCP4 | 15q15.3 | Recessive chorioretinopathy and microcephaly | 12 | 4 |
TUBGCP6 | 22q13.33 | Recessive microcephaly with chorioretinopathy | 8 | 4 |
TULP1 | 6p21.31 | Recessive retinitis pigmentosa; recessive Leber congenital amaurosis | 8 | 4 |
UNC119 | 17q11.2 | Dominant cone-rod dystrophy | 8 | 6 |
USH1C | 11p15.1 | Recessive Usher syndrome, Acadian; recessive deafness without retinitis pigmentosa | 11 | 5 |
USH1G | 17q25.1 | Recessive Usher syndrome | 2 | 1 |
USH2A | 1q41 | Recessive Usher syndrome, type 2a; recessive retinitis pigmentosa | 5 | 2 |
VCAN | 5q14.3 | Dominant Wagner disease and erosive vitreoretinopathy | 12 | 7 |
WDPCP | 2p15 | Recessive Bardet-Biedl syndrome | 17 | 7 |
WDR19 | 4p14 | Recessive renal, skeletal and retinal anomalies; recessive Senior-Loken syndrome | 18 | 4 |
WFS1 | 4p16.1 | Recessive Wolfram syndrome; dominant low frequency sensorineural hearing loss | 9 | 6 |
WHRN | 9q32 | Recessive Usher syndrome, type 2; recessive deafness without retinitis pigmentosa | 8 | 5 |
ZNF408 | 11p11.2 | Dominant familial exudative vitreoretinopathy; recessive retinitis pigmentosa with vitreal alterations | 5 | 1 |
ZNF423 | 16q12.1 | Recessive Jobert syndrome; recessive nephronophthisis | 8 | 8 |
ZNF513 | 2p23.3 | Recessive retinitis pigmentosa | 4 | 3 |
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Aísa-Marín, I.; García-Arroyo, R.; Mirra, S.; Marfany, G. The Alter Retina: Alternative Splicing of Retinal Genes in Health and Disease. Int. J. Mol. Sci. 2021, 22, 1855. https://doi.org/10.3390/ijms22041855
Aísa-Marín I, García-Arroyo R, Mirra S, Marfany G. The Alter Retina: Alternative Splicing of Retinal Genes in Health and Disease. International Journal of Molecular Sciences. 2021; 22(4):1855. https://doi.org/10.3390/ijms22041855
Chicago/Turabian StyleAísa-Marín, Izarbe, Rocío García-Arroyo, Serena Mirra, and Gemma Marfany. 2021. "The Alter Retina: Alternative Splicing of Retinal Genes in Health and Disease" International Journal of Molecular Sciences 22, no. 4: 1855. https://doi.org/10.3390/ijms22041855