ArticleInvestigative ophthalmology & visual science2017
Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.
Article in Investigative ophthalmology & visual science, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 32 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 48 citations in OpenAlex.
- A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.BMC ophthalmology · 2024Pooled it
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- Exome sequencing identifies a homozygous splice site variant inAnnals of medicine · 2025Article
- Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population.Scientific reports · 2025Article
- Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy.Investigative ophthalmology & visual science · 2025Article
- Deciphering the Genetic Basis of Degenerative and Developmental Eye Disorders in 50 Pakistani Consanguineous Families Using Whole-Exome Sequencing.International journal of molecular sciences · 2025Article
- Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.NPJ genomic medicine · 2025Article
- Mutations in retinal cyclic nucleotide-gated channels identified in familial cases of inherited retinal dystrophies from Pakistan.Molecular vision · 2025Article
- Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families.BMC ophthalmology · 2023Article
- CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000-5,000 Years Ago.Frontiers in genetics · 2022Article
- Editorial: The genetics of inherited retinal diseases in understudied ethnic groups: Novel associations, challenges, and perspectives.Frontiers in genetics · 2022Article
- Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.PLoS genetics · 2021Article
- Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies.Scientific reports · 2021Observational
- Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates.European journal of human genetics : EJHG · 2021Article
- USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families.BMC ophthalmology · 2021Article
- Article
- New variants and in silico analyses in GRK1 associated Oguchi disease.Human mutation · 2021Article
- Novel mutations inInternational journal of ophthalmology · 2021Article
- Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.BMC medical genetics · 2020Article
Corrections and comments
- Erratum issuedErratum.2017
Authors and funding
25 authors at 11 institutions in 4 countries.
Funding
Abstract
Purpose: The Pakistan Punjab population has been a rich source for identifying genes causing or contributing to autosomal recessive retinal degenerations (arRD). This study was carried out to delineate the genetic architecture of arRD in the Pakistani population. Methods: The genetic origin of arRD in a total of 144 families selected only for having consanguineous marriages and multiple members affected with arRD was examined. Of these, causative mutations had been identified in 62 families while only the locus had been identified for an additional 15. The remaining 67 families were subjected to homozygosity exclusion mapping by screening of closely flanking microsatellite markers at 180 known candidate genes/loci followed by sequencing of the candidate gene for pathogenic changes. Results: Of these 67 families subjected to homozygosity mapping, 38 showed homozygosity for at least one of the 180 regions, and sequencing of the corresponding genes showed homozygous cosegregating mutations in 27 families. Overall, mutations were detected in approximately 61.8 % (89/144) of arRD families tested, with another 10.4% (15/144) being mapped to a locus but without a gene identified. Conclusions: These results suggest the involvement of unmapped novel genes in the remaining 27.8% (40/144) of families. In addition, this study demonstrates that homozygosity mapping remains a powerful tool for identifying the genetic defect underlying genetically heterogeneous arRD disorders in consanguineous marriages for both research and clinical applications.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.