ArticleAmerican journal of human genetics2002
Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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Who cites it
47 citing papers in PubMed, 151 citations in OpenAlex.
- A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy.Molecular genetics & genomic medicine · 2025Article
- Ocular genetics in the Japanese population.Japanese journal of ophthalmology · 2024Review
- Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants inGlobal medical genetics · 2024Review
- Article
- 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
- Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy:Genes · 2022Article
- Paternal Uniparental Isodisomy of Chromosome 2 in a Patient withInternational journal of molecular sciences · 2021Article
- Inherited Retinal Diseases Due toInternational journal of molecular sciences · 2021Review
- A Homozygous Deletion of Exon 5 ofGenes · 2021Article
- Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion.Molecular genetics & genomic medicine · 2019Article
- RPE phagocytic function declines in age-related macular degeneration and is rescued by human umbilical tissue derived cells.Journal of translational medicine · 2018Article
- Association between Genetic Variations of MERTK and Chronic Obstructive Pulmonary Disease in Koreans.Journal of Korean medical science · 2018Article
- Phenotypic characterization of P23H and S334ter rhodopsin transgenic rat models of inherited retinal degeneration.Experimental eye research · 2018Article
- Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant inMolecular vision · 2018Article
- Non-homologous recombination between Alu and LINE-1 repeats results in a 91 kb deletion inMolecular vision · 2018Article
- Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.Scientific reports · 2017Article
- Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.European journal of human genetics : EJHG · 2016Article
- Gene Therapy for MERTK-Associated Retinal Degenerations.Advances in experimental medicine and biology · 2016Article
- Outer Segment Thickness Predicts Visual Field Response to QLT091001 in Patients withTranslational vision science & technology · 2015Article
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 2 countries.
Funding
Abstract
Uniparental disomy (UPD) is a rare condition in which a diploid offspring carries a chromosomal pair from a single parent. We now report the first two cases of UPD resulting in retinal degeneration. We identified an apparently homozygous loss-of-function mutation of RPE65 (1p31) in one retinal dystrophy patient and an apparently homozygous loss-of-function mutation of MERTK (2q14.1) in a second retinal dystrophy patient. In both families, the gene defect was present in the patient's heterozygous father but not in the patient's mother. Analysis of haplotypes in each nuclear kindred, by use of DNA polymorphisms distributed along both chromosomal arms, indicated the absence of the maternal allele for all informative markers tested on chromosome 1 in the first patient and on chromosome 2 in the second patient. Our results suggest that retinal degeneration in these individuals is due to apparently complete paternal isodisomy involving reduction to homoallelism for RPE65 or MERTK loss-of-function alleles. Our findings provide evidence for the first time, in the case of chromosome 2, and confirm previous observations, in the case of chromosome 1, that there are no paternally imprinted genes on chromosomes 1 and 2 that have a major effect on phenotype.
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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.