ArticleBMC ophthalmology2021
Identification of a novel RHO heterozygous nonsense mutation in a Chinese family with autosomal dominant retinitis pigmentosa.
Article in BMC ophthalmology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Compound heterozygous mutations inHeliyon · 2024Article
- Clinical and genetic features of Koreans with retinitis pigmentosa associated with mutations in rhodopsin.Frontiers in genetics · 2023Article
- A novel mutation GJA8 NM_005267.5: c.124G > A, p.(E42K) causing congenital nuclear cataract.BMC ophthalmology · 2022Article
- Novel and recurrentFrontiers in medicine · 2022Article
- Novel clinical presentation andFrontiers in medicine · 2022Article
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4 authors.
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Abstract
backgroundTo explore the molecular genetic cause of a four-generation autosomal dominant retinitis pigmentosa family in China.
methodsTargeted region sequencing was performed to detect the potential mutation, and Sanger sequencing was used to validate the mutation. Multiple sequence alignment from different species was performed by CLUSTALW. The structures of wild-type and the mutant RHO were modeled by Swiss-Model Server and shown using a PyMOL Molecular Graphic system.
resultsA novel heterozygous nonsense mutation (c.1015 A > T, p.Lys339Ter, p.K339X) within RHO, which cosegregated with retinitis pigmentosa phenotype was detected in this family. Bioinformatics analysis showed the mutation was located in a highly conserved region, and the mutation was predicted to be pathogenic.
conclusionsWe identified a novel heterozygous nonsense mutation of RHO gene in a Chinese family with retinitis pigmentosa by target region sequencing and our bioinformatics analysis indicated that the mutation is pathogenic. Our results can broaden the spectrum of RHO gene mutation and enrich the phenotype-genotype correlation of retinitis pigmentosa.
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