ArticlePloS one2014
Exome sequencing analysis identifies compound heterozygous mutation in ABCA4 in a Chinese family with Stargardt disease.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 19 citations in OpenAlex.
- Clinical and genetic investigations in Chinese families with retinitis pigmentosa.Experimental biology and medicine (Maywood, N.J.) · 2022Article
- Targeted next-generation sequencing identifies ABCA4 mutations in Chinese families with childhood-onset and adult-onset Stargardt disease.Bioscience reports · 2021Article
- Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies.Scientific reports · 2020Article
- Characteristics of genotype and phenotype in Chinese patients with Bardet-Biedl syndrome.International ophthalmology · 2020Article
- A comprehensive analysis of NPHS1 gene mutations in patients with sporadic focal segmental glomerulosclerosis.BMC medical genetics · 2019Article
- Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders.International journal of ophthalmology · 2018Review
- Whole exome sequencing identified novel CRB1 mutations in Chinese and Indian populations with autosomal recessive retinitis pigmentosa.Scientific reports · 2016Article
- Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa.International journal of molecular medicine · 2016Article
- Novel compound heterozygous mutations inMolecular vision · 2016Article
- Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population.Journal of human genetics · 2015Article
- Retinal dystrophies, genomic applications in diagnosis and prospects for therapy.Translational pediatrics · 2015Review
- Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa.Journal of ophthalmology · 2015Article
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Authors and funding
12 authors at 6 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Stargardt disease is the most common cause of juvenile macular dystrophy. Five subjects from a two-generation Chinese family with Stargardt disease are reported in this study. All family members underwent complete ophthalmologic examinations. Patients of the family initiated the disease during childhood, developing progressively impaired central vision and bilateral atrophic macular lesions in the retinal pigmental epithelium (RPE) that resembled a "beaten-bronze" appearance. Peripheral venous blood was obtained from all patients and their family members for genetic analysis. Exome sequencing was used to analyze the exome of two patients II1, II2. A total of 50709 variations shared by the two patients were subjected to several filtering steps against existing variation databases. Identified variations were verified in all family members by PCR and Sanger sequencing. Compound heterozygous variants p.Y808X and p.G607R of the ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4) gene, which encodes the ABCA4 protein, a member of the ATP-binding cassette (ABC) transport superfamily, were identified as causative mutations for Stargardt disease of this family. Our findings provide one novel ABCA4 mutation in Chinese patients with Stargardt disease.
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