Table 1.
Four ADARable nonsense IRD-causing mutations selected for the present study
| Gene | NM | Inheritance pattern | gRNA | c. | p. | Number of patients in cohort | Original AA | Mutated AAa | ADAR edited AAb | % Editing ADAR1 (NGS) | % Editing ADAR2 (NGS) | % Editing ADAR1 (Sanger) | % Editing ADAR2 (Sanger) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| TRPM1 | NM_002420.5 | AR | 60 bases | c.880A>T | p.K294∗ | 49 | AAG (K) | TAG (∗) | TGG (W) | 32.6% (n = 8) | 25.1% (n = 12) | 42.4% (n = 10) | 45.6% (n = 14) |
| FAM161A | NM_001201543 | AR | 60 bases | c.1567C>T | p.R523∗ | 34 | CGA (R) | TGA (∗) | TGG (W) | 2.5% (n = 2) | 4.7% (n = 2) | 1.7% (n = 2) | 5.2% (n = 2) |
| KIZ | NM_018474.4 | AR | 60 bases | c.226C>T | p.R76∗ | 21 | CGA (R) | TGA (∗) | TGG (W) | 7.4% (n = 6) | 7.8% (n = 6) | 3.3% (n = 2) | 9.9% (n = 3) |
| USH2A | NM_206933.2 | AR | 60 bases | c.11864G>A | p.W3955∗ | 49c | TGG (W) | TAG (∗) | TGG (W) | 31.2% (n = 5) | 20.5% (n = 4) | 30.0% (n = 3) | 29.5% (n = 5) |
| USH2A | NM_206933.2 | AR | 18 bases + 55 base GR | c.11864G>A | p.W3955∗ | 49c | TGG (W) | TAG (∗) | TGG (W) | 0.5% (n = 2) | 9% (n = 4) | 0% (n = 2) | 10.4% (n = 4) |
AA, amino acid; AR, autosomal recessive; NGS, next-generation sequencing.
a
The mutated nucleotide is in boldface type.
b
The edited nucleotide is in boldface type.
c
Based on a previous analysis of IRD variants worldwide.15