ArticleMolecular vision2009
Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.
Article in Molecular vision, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review.Advances in therapy · 2022Pooled it
- Revival abroad, beginning at home: A case for the Indian clinician-scientist.Indian journal of ophthalmology · 2026Article
- Elucidating the genetic landscape of inherited retinal disorders in India.Human genomics · 2026Review
- Inherited retinal disorders: a genotype-phenotype correlation in an Indian cohort and the importance of genetic testing and genetic counselling.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2023Article
- Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.International journal of molecular sciences · 2023Article
- Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee.Korean journal of ophthalmology : KJO · 2023Article
- Predicting potentially pathogenic effects ofJournal of enzyme inhibition and medicinal chemistry · 2022Article
- Rare eye diseases in India: A concise review of genes and genetics.Indian journal of ophthalmology · 2022Review
- Genetics of Inherited Retinal Diseases in Understudied Populations.Frontiers in genetics · 2022Review
- Clinical exome sequencing facilitates the understanding of genetic heterogeneity in Leber congenital amaurosis patients with variable phenotype in southern India.Eye and vision (London, England) · 2021Article
- Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India.Molecular genetics & genomic medicine · 2020Article
- Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families.Molecular vision · 2019Article
- Review and update on the molecular basis of Leber congenital amaurosis.World journal of clinical cases · 2015Review
- Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis.Journal of ophthalmology · 2015Article
- Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.PloS one · 2015Article
- The Rpe65 rd12 allele exerts a semidominant negative effect on vision in mice.Investigative ophthalmology & visual science · 2014Article
- Complementation test of Rpe65 knockout and tvrm148.Investigative ophthalmology & visual science · 2013Article
- Mutational screening of LCA genes emphasizing RPE65 in South Indian cohort of patients.PloS one · 2013Article
- Exome capture sequencing identifies a novel mutation in BBS4.Molecular vision · 2011Article
- Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.PloS one · 2011Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
purposeTo test patients from southern India for the presence of mutations that most commonly cause Leber congenital amaurosis (LCA) in northern America.
methodsA review of the literature identified 177 unique LCA causing mutations in eight different genes: aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), crumbs homolog 1 (CRB1), cone-rod homeobox (CRX), guanylate cyclase 2D (GUCY2D), nephronophthisis 6 (NPHP6), retinol dehydrogenase 12 (RDH12), retinal pigment epithelium-specific protein 65 kDa (RPE65), and retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1). Allele-specific ligation assay and bidirectional sequencing were used to test 38 unrelated LCA patients from southern India for 104 of these mutations, which contribute to more than 30% of the LCA cases in a northern American population.
resultsOnly one participant was found to harbor one of the 104 mutations in the allele-specific assay (homozygous RPE65 Tyr368His). A mutation that was not part of the assay (homozygous RPE65 Tyr143Asp) was incidentally detected in a second patient when an equivocal signal from one allele on the assay was followed up with automated DNA sequencing.
conclusionsMutations that contribute to 30% of the LCA cases in northern America were detected in only 2.6% of LCA cases in our cohort from southern India. There were no instances of IVS26 c.2991+1655 A>G in NPHP6, the most commonly detected mutation in LCA. These data suggest that LCA in India is caused primarily by a different set of mutations in the same genes associated with disease in northern America, or by mutations in other genes that have not yet been discovered. Therefore, mutation-specific assays developed for European and northern American cohorts may not be suited for testing LCA patients from India or other ethnically distinct populations.
Indexed as
Identifiers
19753312PMC2742639W2102154680What OpenQuestion holds
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.