Table 1. Known mutations and novel potentially causative changes detected in patients.
ID |
Type |
Phenotype |
Gene |
Mutation |
|
Reference |
rs ID |
Patients harboring known mutations |
K1741 |
simplex |
CRD |
ABCA4 |
c.6445C>T |
p.R2149* (homo) |
[19,21]
|
rs61750654 |
K2022 |
ad |
CD |
PRPH2 |
c.589A>G |
p.K197E (hetero) |
[38]
|
rs62645931 |
K2039 |
simplex |
CRD |
ABCA4 |
c.1760+2T>G (homo) |
[20,30]
|
rs61751385 |
K3341 |
ad |
CD |
GUCY2D |
c.2512C>T |
p.R838C (hetero) |
[39]
|
rs61750172 |
K6073 |
ad |
CRD |
PROM1 |
c.1117C>T |
p.R373C (hetero) |
[40]
|
rs137853006 |
K6120 |
ar |
CRD |
ABCA4 |
c.1957C>T |
p.R653C (homo) |
[21,31]
|
rs61749420 |
K6205 |
ad |
CRD |
PROM1 |
c.1117C>T |
p.R373C (hetero) |
[40]
|
rs137853006 |
K6343 |
simplex |
CD |
CRX |
c.121C>T |
p.R41W (hetero) |
[41]
|
rs104894672 |
Patients harboring at least one novel mutation |
K2044 |
ar |
CRD |
ABCA4 |
c.3050+1G>A (homo) |
Novel |
NA |
K6140 |
simplex |
CD |
CDHR1 |
c.386A>G |
p.N129S (homo) |
Novel |
NA |
K6247 |
ar |
CRD |
CRB1 |
c.652+1_652+4del (homo) |
Novel |
NA |
K6496 |
simplex |
CD |
KCNV2 |
c.529T>C |
p.C177R (hetero) |
[42]
|
NA |
|
|
|
|
c.454G>A |
p.D152N (hetero) |
Novel |
NA |
K6345 |
simplex |
CRD |
CRX |
c.284delG (hetero) |
Novel |
NA |
K3479 |
ar |
Bradyopsia |
RGS9BP |
c.211G>T |
p.E71* (homo) |
Novel |
NA |