Table 1. PROM1 Mutations identified in patients with inherited retinal dystrophies,
Exon / Intron | Base Change | Amino Acid Substitution | Phenotype | Reference |
---|---|---|---|---|
Recessive Mutations | ||||
Exon 4 |
c.442A>T |
p.K148X |
arRP |
[18] |
Exon 5 |
c.622delA |
p.T208Lfs22X |
arRP |
[19] |
Exon 6 |
c.642T>A |
p.Y214X |
arRP |
[20] |
Exon 7 |
c.730C>T |
p.R244X |
arCRD |
[21] |
Exon 8 |
c.869delG |
p.S290IfsX |
arRP with macular degeneration |
[22] |
Intron 10 |
c.1142–1G>A |
|
arCRD |
[7] |
Exon 11 |
c.1157T>A |
p.L386X |
arCRD |
[23] |
Exon 11 |
c.1209–1229del |
p.Q403-S410del;insH |
arRP |
[20] |
Exon 12 |
c.1349insT |
p.Y452Ffs38X |
arCRD |
[9] |
Exon 12 |
c.1355_1356insT |
p.Y453Lfs11X |
arRP |
[19] |
Intron 12 |
c.1454+2T>C |
|
arCRD |
[24] |
Intron 13 |
c.1579–1G>C |
|
arCRD |
[24] |
Exon 15 |
c.1697dupA |
p.N566KfsX |
arCRD |
[25] |
Exon 15 |
c.1726C>T |
p.Q576X |
arRP with macular degeneration |
[26] |
Exon 16 |
c.1841delG |
p.G614Efs12X |
arRP with macular degeneration |
[8] |
Intron 17 |
c.1983+1G>T |
|
arCRD |
[21] |
Intron 17 |
c.1984–1G>T |
|
arCRD |
[24] |
Intron 18 |
c.2077–521A>G |
|
arCRD |
[17] |
Intron 21 |
c.2281–26_-17del |
p.I761-L791del |
arCRD |
Current study |
Exon 23 |
c.2383T>C |
p.W795R |
arCRD |
[24] |
Dominant Mutations | ||||
Exon 1 |
c.7dup |
p.L3Pfs28X |
adCRD |
[24] |
Exon 10 | c.1117C>T | p.R373C | ad Stargardt-like MD, ad bull's-eye MD, adCRD | [6] |
ar, autosomal recessive; ad, autosomal dominant; RP, retinitis pigmentosa; CRD, cone-rod dystrophy; MD, macular dystrophy