ArticleInternational journal of ophthalmology2016
Novel mutations in PDE6B causing human retinitis pigmentosa.
Article in International journal of ophthalmology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 15 citations in OpenAlex.
- Pseudodominant Inheritance of Retinitis Pigmentosa Due to Mutations in the Phosphodiesterase 6B Gene: A Case Report.Cureus · 2023Article
- Lutein delays photoreceptor degeneration in a mouse model of retinitis pigmentosa.Neural regeneration research · 2022Article
- Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and Beyond.Frontiers in cell and developmental biology · 2021Review
- Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients.Scientific reports · 2020Article
- PRPF31 reduction causes mis-splicing of the phototransduction genes in human organotypic retinal culture.European journal of human genetics : EJHG · 2020Article
- Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.Journal of Korean medical science · 2019Article
- Requirements for Neurogenin2 during mouse postnatal retinal neurogenesis.Developmental biology · 2018Article
- Lutein and Zeaxanthin Isomers Reduce Photoreceptor Degeneration in theBioMed research international · 2018Article
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Authors and funding
13 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimTo identify the genetic defects of a Chinese patient with sporadic retinitis pigmentosa (RP).
methodsOphthalmologic examinations were performed on the sporadic RP patient, 144 genes associated with retinal diseases were scanned with capture next generation sequencing (CNGS) approach. Two heterozygous mutations in PDE6B were confirmed in the pedigree by Sanger sequencing subsequently. The carrier frequency of PDE6B mutations of reported PDE6B mutations based on the available two public exome databases (1000 Genomes Project and ESP6500 Genomes Project) and one in-house exome database was investigated.
resultsWe identified compound heterozygosity of two novel nonsense mutations c.1133G>A (p.W378X) and c.2395C>T (p.R799X) in PDE6B, one reported causative gene for RP. Neither of the two mutations in our study was presented in three exome databases. Two mutations (p.R74C and p.T604I) in PDE6B have relatively high frequencies in the ESP6500 and in-house databases, respectively, while no common dominant mutation in each of the database or across all databases.
conclusionWe demonstrates that compound heterozygosity of two novel nonsense mutations in PDE6B could lead to RP. These results collectively point to enormous potential of next-generation sequencing in determining the genetic etiology of RP and how various mutations in PDE6B contribute to the genetic heterogeneity of RP.
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