Method | Disease | Gene symbol | Inheritance | Aberration type | Reference(s) |
---|---|---|---|---|---|
Whole-exome sequencing | Retinitis pigmentosa (RP) | DHDDS | Recessive | Missense | [27] |
MAK | Recessive | Alu insertion | [28] | ||
GNPTG | Recessive | 6-bp deletion | [29] | ||
EMC1 | Recessive | Missense | [30] | ||
GPR125 | Recessive | Frame-shift, splice-site | [30] | ||
KIAA1549 | Recessive | Frame-shift | [30] | ||
ARL2BP | Recessive | Splice-acceptor, missense | [31] | ||
Leber congenital amaurosis (LCA) | NMNAT1 | Recessive | Missense and truncation | ||
KCNJ13 | Recessive | Truncation | [36] | ||
DTHD1 | Recessive | Missense | [30] | ||
Congenital stationary night blindness (CSNB) | LRIT3 | Recessive | Missense and truncation | [37] | |
GPR179 | Recessive | Missense and truncation | [38] | ||
Ciliopathy with skeleton abnormality | WDR19 | Recessive | Missense and truncation | [39] | |
High myopia | ZNF644 | Dominant | Missense | [40] | |
Bardet-Biedl syndrome (BBS) | LZTFL1 | Recessive | Truncation | [41] | |
Nephronophthisis with retinal degeneration | ZNF423 and CEP164 | Recessive | Missense, truncation, loss of stop codon | [42] | |
Usher syndrome | HARS | Recessive | Missense | [43] | |
Benign fleck retina | PLA2G5 | Recessive | Missense and truncation | [44] | |
Cone-rod dystrophy | RAB28 | Recessive | Truncation | [45] | |
ACBD5 | Recessive | Frame-shift | [30] | ||
C21orf2 | Recessive | Frame-shift | [30] | ||
Knobloch syndrome and retinal dystrophy | ADAMTS18 | Recessive | Missense | ||
Targeted sequencing | RP, cone-rod dystrophy | C8orf37 | Recessive | Truncation | [48] |
AMD | CFH | Dominant | Missense | [49] | |
CFI | Dominant | Missense | [50] | ||
Usher syndrome | ABHD12 | Recessive | Truncation | [51] | |
CSNB | GPR179 | Recessive | Large insertion | [52] | |
X-linked RP | OFD1 | X-linked | Intronic mutation | [53] | |
Jobert syndrome | TMEM237 | Recessive | Truncation | [54] | |
Familial exudative vitreoretinopathy | TSPAN12 | Dominant | Missense | [55] | |
Candidate exome capture | Retinal- renal ciliopathy | SDCCAG8 | Recessive | Truncation mutations | [56] |
cis -Regulatory mapping | RP | MAK | Recessive | Truncation mutation | [57] |