Skip to main content

Table 1 List of novel genes identified in retinal and macular degeneration using next-generation sequencing approaches

From: Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing

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

[3235]

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

[46, 47]

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]

  1. All of the diseases listed here, except AMD, are monogenic. AMD is a multifactorial and complex disease.