ArticleJapanese journal of ophthalmology2014
A novel exon 17 deletion mutation of RPGRIP1 gene in two siblings with Leber congenital amaurosis.
Article in Japanese journal of ophthalmology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 16 citations in OpenAlex.
- DELETION INVOLVING EXON 18 OF RPGRIP1 IS a MAJOR CAUSE OF ACHROMATOPSIA.Retina (Philadelphia, Pa.) · 2026Observational
- Identification of Pathogenic Copy Number Variants in Mexican Patients With Inherited Retinal Dystrophies Applying an Exome Sequencing Data-Based Read-Depth Approach.Molecular genetics & genomic medicine · 2024Article
- Ocular genetics in the Japanese population.Japanese journal of ophthalmology · 2024Review
- Posterior Polar Annular Choroidal Dystrophy: Genetic Insights and Differential Diagnosis in Inherited Retinal Diseases.Current issues in molecular biology · 2024Review
- A homozygous structural variant ofGenetics in medicine open · 2024Article
- The Structural Abnormalities Are Deeply Involved in the Cause ofInternational journal of molecular sciences · 2023Article
- 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
- Noncoding mutation inMolecular vision · 2021Article
- Ocular Characteristics of Patients with Leber Congenital Amaurosis 6 Caused by PathogenicJournal of ophthalmology · 2021Article
- Novel mutation identified in Leber congenital amaurosis - a case report.BMC ophthalmology · 2020Article
- Retinal structure in Leber's congenital amaurosis caused byHuman genome variation · 2019Article
- Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing.Scientific reports · 2018Article
- Diagnostic application of clinical exome sequencing in Leber congenital amaurosis.Molecular vision · 2017Article
- Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.Human mutation · 2015Article
- Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis.Journal of ophthalmology · 2015Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo investigate mutations of causal genes in two affected male siblings of a Japanese family with suspected Leber congenital amaurosis (LCA) and to characterize the related clinical features.
methodsAfter obtaining informed consent, genomic DNA was extracted from peripheral blood of the proband and his family members. Mutation screening was initially performed with microarrays. The PCR and direct sequencing were successively done for confirmation of mutation detected by microarray, and the two patients who are the subjects of this study were also clinically examined.
resultsResults of the microarray suggested deletion of exon 17 of RPGRIP1. Confirmation by PCR and direct sequencing following microarray analysis revealed that both siblings had homozygous deletion of exon 17 of the RPGRIP1 gene, while their unaffected parents were heterozygous carriers. Length of the deletion was 1339 bp including exon 17 at the position of c.2710+372_2895+76del1339. Clinical features of the two siblings showed nystagmus, poor visual acuity, hyperopia, and photophobia since early childhood; but there was no oculo-digital sign, vessel attenuation or RPE mottling from the mid-retina to the periphery. Full-field single flash ERG was recordable but 30 Hz flicker ERG was not detectable.
conclusionsAlthough the present patients did not show sufficient clinical findings as LCA, PCR findings and direct sequencing following microarray analysis confirmed that they were LCA. Genetic analyses are helpful for confirmation of clinical diagnosis.
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