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. 2014 Sep 11;9(9):e107326. doi: 10.1371/journal.pone.0107326

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