ArticleScientific reports2015
Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.
Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 36 citations in OpenAlex.
- Article
- Genetic and bioinformatic analysis of RHO and PRPH2 variants in north Indian retinitis pigmentosa patients.Japanese journal of ophthalmology · 2026Article
- Identification of Variants in Four Families With Inherited Eye Disorders by Whole Exome Sequencing.Molecular genetics & genomic medicine · 2025Article
- Novel compound heterozygousExperimental and therapeutic medicine · 2025Article
- Mutations in retinal cyclic nucleotide-gated channels identified in familial cases of inherited retinal dystrophies from Pakistan.Molecular vision · 2025Article
- In vivo photoreceptor base editing ameliorates rhodopsin-E150K autosomal-recessive retinitis pigmentosa in mice.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.BMC ophthalmology · 2023Article
- Retinitis Pigmentosa: Novel Therapeutic Targets and Drug Development.Pharmaceutics · 2023Review
- Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families.BMC ophthalmology · 2022Article
- Polyphenols and Visual Health: Potential Effects on Degenerative Retinal Diseases.Molecules (Basel, Switzerland) · 2021Review
- CNGB1-related rod-cone dystrophy: A mutation review and update.Human mutation · 2021Review
- Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype-Phenotype Correlation in 228 Patients.Frontiers in cell and developmental biology · 2021Article
- Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies.Scientific reports · 2020Article
- Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing.Molecular vision · 2020Article
- HeterozygousBioscience reports · 2019Article
- Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy.The Journal of clinical investigation · 2018Article
- Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa.JAMA ophthalmology · 2018Article
- An early nonsense mutation facilitates the expression of a short isoform of CNGA3 by alternative translation initiation.Experimental eye research · 2018Article
- Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach.The Journal of clinical investigation · 2018Article
- The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy.Progress in retinal and eye research · 2018Review
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Authors and funding
12 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited retinal dystrophies are phenotypically and genetically heterogeneous. This extensive heterogeneity poses a challenge when performing molecular diagnosis of patients, especially in developing countries. In this study, we applied homozygosity mapping as a tool to reduce the complexity given by genetic heterogeneity and identify disease-causing variants in consanguineous Pakistani pedigrees. DNA samples from eight families with autosomal recessive retinal dystrophies were subjected to genome wide homozygosity mapping (seven by SNP arrays and one by STR markers) and genes comprised within the detected homozygous regions were analyzed by Sanger sequencing. All families displayed consistent autozygous genomic regions. Sequence analysis of candidate genes identified four previously-reported mutations in CNGB3, CNGA3, RHO, and PDE6A, as well as three novel mutations: c.2656C > T (p.L886F) in RPGRIP1, c.991G > C (p.G331R) in CNGA3, and c.413-1G > A (IVS6-1G > A) in CNGB1. This latter mutation impacted pre-mRNA splicing of CNGB1 by creating a -1 frameshift leading to a premature termination codon. In addition to better delineating the genetic landscape of inherited retinal dystrophies in Pakistan, our data confirm that combining homozygosity mapping and candidate gene sequencing is a powerful approach for mutation identification in populations where consanguineous unions are common.
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