Table 1 of Aldahmesh, Mol Vis 2009; 15:2464-2469. Table 1 of Aldahmesh, Mol Vis 2009; 15:2464-2469.
Table 1. Summary of gene mutations.
Family ID |
N |
Phenotype |
Gene |
Mutation |
Homozygous versus Heterozygous | Effect of Mutation |
No. of reported mutations in the literature | Reference |
GenBank accession number |
|---|---|---|---|---|---|---|---|---|---|
| DGU-F3-DGU-F10 | 27 | LCA | TULP1 | c.895C>T; p.Q301X | Homozygous | Premature truncation | 23 | [16] | NM_003322.3 |
| DGU-F13 | 3 | LCA | CRX | c.458delC; p.P153fsX | Heterozygous | Frameshift and premature truncation | 39 | [20] | NM_000554.3 |
| DGU-F14 | 3 | LCA | RDH12 | c.226G>C; p.G76R | Homozygous | Replacement of a highly conserved glycine residue by arginine | 31 | this study | NM_152443.1 |
| DGU-F1 | 3 | RP | RP1 | c.662delC; p.A221GfsX20 | Homozygous | Frameshift and premature truncation | 48 | this study | NM_006269.1 |
| DGU-F2 | 3 | RP | RP1 | c.606C>A;p.D202E | Homozygous | Replacement of a highly conserved aspartic acid residue in the 2nd Doublecortin domain | this study | ||
| DGU-F11 | 4 | RP | CRB1 | c.3159T>G; p.C1053W | Homozygous | Replacement of a highly conserved threonine residue in the 3rd Laminin G-like domain | 102 | this study | NM_201253.1 |
| DGU-F12 | 1 | RP | CRB1 | c.80G>C; p.C27F | Homozygous | Replacement of a highly conserved cysteine residue in the 2nd EGF-like domain | this study | ||
| DGU-F15 | 4 | RP | ARL6 (BBS3) | c.619C>T; p.A89V | Homozygous | Replacement of a highly conserved alanine residue by valine | 0 | this study | NM_032146.3 |
| DGU-F16 | 3 | RP | MERTK | c.1335delAG; R445RfsX28 | Homozygous | Frameshift and premature truncation | 11 | this study | NM_006343.2 |
| DGU-F17 | 1 | RP | N/A | N/A | N/A | N/A | N/A | N/A | N/A |