Table 6. Genotypes of the five USH1 patients and the two family healthy carriers of USH1 mutations presented in this study.
Patient | Gene | Allele 1/Allele 2 |
RP-1481* | MYO7A | c.6_9dup (p.L4DfsX39) (exon2)/+ |
RP-1546* | MYO7A | c.640G>A (p.G214R) (exon7)/+ |
RP-115 | MYO7A | c.3508G>A (p.E1170K) (exon 28)/c.3238A>T (p.K1080X) (exon 25) |
RP-1479 | MYO7A | c.5581C>T (p.R1861X) (exon 40)/c.5581C>T (p.R1861X) (exon 40) |
RP-280 | MYO7A | c.5856G>A (p.K1952K) (exon 42)/c.1190C>A (p.A397D) (exon 11) |
RP-1534 | CDH23 | c.2289+1G>A (intron 21)/c.6049G>A (p.G2017S) (exon46) |
RP-928 | CDH23 | c.8722+1delG (intron 60)/c.6511delC (exon48) |
Family healthy carriers are indicated with an asterisk (*).