Figure 1.
Pedigrees of the Usher syndrome in this study. Closed symbol represents affected patient and open symbol indicates unaffected subject. The bar over the symbol indicates examined subjects in this study. Arrow indicates proband. Slash represents deceased person. The box labeled with different color indicates different mutation in each pedigree.
Figure 2.
A. OCT examination demonstrated thinned retina in the proband patient with Usher syndrome (F3-III-15); B. ERG testing showed extinguished rod response; C. representative fundography of the patient.
Table 1.
Clinical manifestations of the proband patients.
Table 2.
Identified mutations in USH2A gene.
Figure 3.
Mutation spectrum in the USH2A gene.
Gene level overview of the summarized USH2A mutations. The gene is comprised of 71 exons which harbored 1000 distinct mutations so far have been reported. The new identified mutations are marked as arrows in the schema. Each color of the box in the figure represents a mutation type: orange, nonsense mutation; black, splice site mutation; green, indel; pink, frameshift mutation; sky blue, mutation in 3′UTR; blue, intronic mutation; purple, missense mutation. Red asterisk indicates novel mutation discovered in this study. Het-one, single heterozygous mutation; homo, homozygous mutation.