Table 1. Summary of the identified mutations in the four Usher genes.
Family | Ethnicity | Linkage | Proband | Gene | Mutation | Status | Reported | |
cDNA | protein | |||||||
Usher Type 1 | ||||||||
USHEG5 | Egyptian | no linkage data | II-1 | MYO7A | c.2863G>A | p.G955S | Hom | Reported |
USHJO9 | Jordanian | linked to 11q13.5 [28] | III-2 | MYO7A | c.462C>A | p.C154* | Hom | Novel |
USHLB12 | Lebanese | no linkage data | II-2 | MYO7A | c.834C>A | p.Y278* | Hom | Novel |
USHLB14 | Lebanese | no linkage data | II-1 | CDH23 | c.8803C>T | p.R2935* | Hom | Novel |
Usher Type 2 | ||||||||
USHLB1 | Lebanese | linked to 1q [29] | III-3 | USH2A | c.11907delA | p.A3970Lfs*14 | Hom | Novel |
USHLB6 | Lebanese | linked to 1q [29] | II-2 | USH2A | c.531_532insA | p.T178Nfs*4 | Hom | Novel |
USHLB8 | Lebanese | linked to 1q [29] | II-1 | USH2A | c.14031_14032insA | p.A4678Sfs*5 | Hom | Novel |
USHLB13 | Lebanese | no linkage data | II-1 | USH2A | c.4707T>G | p.Y1569* | Het | Novel |
USH2A | c.14424C>A | p.C4808* | Het | Novel | ||||
USHJO10 | Jordanian | no linkage data | III-1 | USH2A | c.8681G>A | p.R2894K/p.R2853Ifs*5 | Hom | Novel |
USHLB2 | Lebanese | weak linkage | III-2 | GPR98 | c.17756-2239_17856+11702delins17bp | p.G5919Nfs*15 | Hom | Novel |
USHLB11 | Lebanese | weak linkage | II-4 | GPR98 | c.16040delA | p.D5347Vfs*22 | Hom | Novel |