Purpose. To investigate genetic and clinical features of patients with rhodopsin (RHO) mutations in two Japanese families with\nautosomal dominant retinitis pigmentosa (adRP). Methods.Whole-exome sequence analysis was performed in ten adRP families.\nIdentified RHO mutations for the cosegregation analysis were confirmed by Sanger sequencing. Ophthalmic examinations were\nperformed to evaluate the RP phenotypes. The impact of the RHO mutation on the rhodopsin conformation was examined by\nmolecularmodeling analysis. Results. In two adRP families,we identified two RHOmutations (c.377G>T (p.W126L) and c.1036G>C\n(p.A346P)), one of which was novel. Complete cosegregation was confirmed for each mutation exhibiting the RP phenotype in\nboth families. Molecular modeling predicted that the novel mutation (p.W126L) might impair rhodopsin function by affecting its\nconformational transition in the light-adapted form. Clinical phenotypes showed that patients with p.W126L exhibited sector RP,\nwhereas patients with p.A346P exhibited classic RP. Conclusions. Our findings demonstrated that the novel mutation (p.W126L)\nmay be associated with the phenotype of sector RP. Identification of RHO mutations is a very useful tool for predicting disease\nseverity and providing precise genetic counseling.
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