Table 2.
Prevalence of Disease-Causing Variants in 138 Chinese adRP families and mutation type for each gene.
| Gene | No.Families | % | MS | FS | NS | SP | CNV | Others |
|---|---|---|---|---|---|---|---|---|
| adRP gene | ||||||||
| ARL3 | 1 | 0.7 | 1 | 0 | 0 | 0 | 0 | 0 |
| CRX | 1 | 0.7 | 0 | 1 | 0 | 0 | 0 | 0 |
| IMPDH1 | 2 | 1.4 | 2 | 0 | 0 | 0 | 0 | 0 |
| PRPF31 | 20 | 14.5 | 3 | 1 | 2 | 5 | 7 | 2 |
| PRPF6 | 1 | 0.7 | 1 | 0 | 0 | 0 | 0 | 0 |
| PRPF8 | 5 | 3.6 | 4 | 1 | 0 | 0 | 0 | 0 |
| PRPH2 | 1 | 0.7 | 0 | 1 | 0 | 0 | 0 | 0 |
| RHO | 23 | 16.7 | 20 | 0 | 3 | 0 | 0 | 0 |
| RP1 | 8 | 5.8 | 1 | 3 | 4 | 0 | 0 | 0 |
| SNRNP200 | 8 | 5.8 | 8 | 0 | 0 | 0 | 0 | 0 |
| TOPORS | 3 | 2.2 | 1 | 2 | 0 | 0 | 0 | 0 |
| xlRP gene | ||||||||
| RP2 | 2 | 1.4 | 1 | 0 | 1 | 0 | 0 | 0 |
| RPGR | 4* | 2.9 | 2 | 2 | 0 | 0 | 0 | 0 |
| arRP gene | ||||||||
| EYS | 1 | 0.7 | 1 | 0 | 1 | 0 | 0 | 0 |
| FAM161A | 1* | 0.7 | 0 | 0 | 1 | 0 | 1 | 0 |
| USH2A | 1 | 0.7 | 2 | 0 | 0 | 0 | 0 | 0 |
| adCORD gene | ||||||||
| RIMS1 | 1 | 0.7 | 1 | 0 | 0 | 0 | 0 | 0 |
| Not solved | 56 | 40.6 | ||||||
| Total | 138 | 100 | ||||||
ad, autosomal dominant; ar, autosomal recessive; CORD, cone and rod dystrophy; FS, frameshift; MS, missense; NS, non-sense; Other, run-on or synonymous variant; RP, retinitis pigmentosa; SP, splicing effect;
*
one proband carrying both variants of RPGR and FAM161A.