ArticleGenes2022
Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy:
Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 11 citations in OpenAlex.
- Repurposing the HMG-CoA reductase inhibitor atorvastatin for SRD5A3-congenital disorder of glycosylation.Communications medicine · 2026Article
- Repurposing the HMG-CoA Reductase Inhibitor Atorvastatin for SRD5A3-CDG.bioRxiv : the preprint server for biology · 2026Article
- Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan.JIMD reports · 2025Article
- 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
- Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159-9T>A, in a Chinese patient with mucopolysaccharidosis type I.Molecular genetics & genomic medicine · 2024Article
- The Structural Abnormalities Are Deeply Involved in the Cause ofInternational journal of molecular sciences · 2023Article
- A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene.Human genome variation · 2023Article
- A rare case of SRD5A3-CDG in a patient with ataxia and telangiectasia: A case report.Clinical case reports · 2022Article
- First report of paternal uniparental disomy of chromosome 8 withFrontiers in genetics · 2022Article
Corrections and comments
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Authors and funding
15 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeUniparental disomy (UPD) is a rare chromosomal abnormality. We performed whole-exosome sequencing (WES) in cases of early-onset retinal dystrophy and identified two cases likely caused by UPD. Herein, we report these two cases and attempt to clarify the clinical picture of retinal dystrophies caused by UPD.
methodsWES analysis was performed for two patients and their parents, who were not consanguineous. Functional analysis was performed in cases suspected of congenital disorders of glycosylation (CDG). We obtained clinical case data and reviewed the literature.
resultsIn case 1, a novel c.57G>C, p.(Trp19Cys) variant in
conclusionsThere have been limited reports of retinal dystrophy caused by UPD, suggesting that it is rare. Genetic counseling may be encouraged in pediatric cases of retinal dystrophy.
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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 Socratic graph.