ArticleJournal of ophthalmology2014
RHO Mutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa.
Article in Journal of ophthalmology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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Who cites it
8 citing papers in PubMed.
- Review
- Clinical and genetic findings in Italian patients with sector retinitis pigmentosa.Molecular vision · 2021Article
- HeterozygousBioscience reports · 2019Article
- Sector retinitis pigmentosa: Report of ten cases and a review of the literature.Molecular vision · 2019Review
- Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.Scientific reports · 2017Article
- Functional role of positively selected amino acid substitutions in mammalian rhodopsin evolution.Scientific reports · 2016Article
- Identification of a rhodopsin gene mutation in a large family with autosomal dominant retinitis pigmentosa.Scientific reports · 2016Article
- Haplotypes of RHO polymorphisms and susceptibility to age-related macular degeneration.International journal of clinical and experimental pathology · 2015Article
Corrections and comments
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose. To investigate genetic and clinical features of patients with rhodopsin (RHO) mutations in two Japanese families with autosomal dominant retinitis pigmentosa (adRP). Methods. Whole-exome sequence analysis was performed in ten adRP families. Identified RHO mutations for the cosegregation analysis were confirmed by Sanger sequencing. Ophthalmic examinations were performed to evaluate the RP phenotypes. The impact of the RHO mutation on the rhodopsin conformation was examined by molecular modeling analysis. Results. In two adRP families, we identified two RHO mutations (c.377G>T (p.W126L) and c.1036G>C (p.A346P)), one of which was novel. Complete cosegregation was confirmed for each mutation exhibiting the RP phenotype in both families. Molecular modeling predicted that the novel mutation (p.W126L) might impair rhodopsin function by affecting its conformational transition in the light-adapted form. Clinical phenotypes showed that patients with p.W126L exhibited sector RP, whereas patients with p.A346P exhibited classic RP. Conclusions. Our findings demonstrated that the novel mutation (p.W126L) may be associated with the phenotype of sector RP. Identification of RHO mutations is a very useful tool for predicting disease severity and providing precise genetic counseling.
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