ArticleInternational journal of ophthalmology2019
Novel mutation in
Article in International journal of ophthalmology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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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.
The trial behind it
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Who cites it
4 citing papers in PubMed, 4 citations in OpenAlex.
- Prenatal diagnosis of lowe syndrome: identification of a novel pathogenic variation in the OCRL1gene.Molecular biology reports · 2026Article
- Prenatal ultrasound findings of X-linked congenital cataracts: case report and description of a novel variant.American journal of translational research · 2022Article
- Novel pathogenic OCRL mutations and genotype-phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review.BMC medical genomics · 2021Review
- Oculocerebrorenal syndrome of Lowe: Survey of ophthalmic presentations and management.European journal of ophthalmology · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimTo investigate the phenotype and genotype of a family with X-linked recessive Lowe syndrome.
methodsAll the members in the Chinese pedigree underwent comprehensive ophthalmologic and systemic examinations. Genomic DNA was isolated from peripheral blood of the pedigree members and 100 unrelated healthy Chinese subjects. Direct sequencing was performed to screen the exons and intron boundaries of
resultsThe ophthalmological and systemic examinations suggested that the affected individual had Lowe syndrome. The phenotype in the pedigree is severe and consistent among all the affected individuals except for an individual who additionally suffered from congenital heart disease and laryngeal cartilage dysplasia. Directional Sanger sequencing identified a complex mutation c.(2368_2368delG; c.2370A>C) in the Rho-GTPase activating protein domain. This complex mutation causes termination of protein synthesis at amino acid 824 and result in a new peptide with 823 amino acids (p.Ala790ProfsX34). This mutation was not detected in 100 unrelated healthy Chinese subjects.
conclusionOur findings expand the phenotypic and genotypic spectrum of Lowe syndrome.
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Registered trials
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