Table 2 of
Yang, Mol Vis 2014; 20:359-367. Table 2 of
Yang, Mol Vis 2014; 20:359-367.
Table 2. CRB1 mutations identified in four families with retinitis pigmentosa and Leber congenital amaurosis
| Family Number | Clinical Diagnosis | Allele 1 Exon Nucleotide 1 Protein 1 | Allele 2 Exon Nucleotide 2 Protein 2 | Sex | Age(y) | Onset age (yrs) | Visual acuity (corrected) R eye L eye | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Family 1 | RP | Exon 9 | c.3460T>A* | p.C1154S* | Exon 12 | c.4207G>C* | p.E1403Q* | M | 35 | 25 | 0.3 | 0.1 |
| Family 2 | LCA | Exon 6 | c.1831T>C | p.S611P | Exon 9 | c.3059delT* | p.M1020SfsX1* | M | 7 | <1 | 0.01 | 0.01 |
| Family 3 | LCA | Exon 6 | c.1576C>T | p.R526X | Exon 7 | c.2234C>T | p.T745M | F | 24 | 1 | 0.05 | FC |
| Family 4 | LCA | Exon 6 | c.1429G>A | p.G477R | Exon 6 | c.1576C>T | p.R526X | M | 22 | childhood | 0.02 | 0.02 |