ArticleEye (London, England)2018
Mutation screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population.
Article in Eye (London, England), 2018. 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.
- Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.Birth defects research · 2024Article
- Novel compound heterozygous variants in theFrontiers in cell and developmental biology · 2023Article
- Review
- The Next Generation of Molecular and Cellular Therapeutics for Inherited Retinal Disease.International journal of molecular sciences · 2021Review
- An isolated childhood myeloid sarcoma with germline MSH6 mutation-a case report.Translational pediatrics · 2021Article
- USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families.BMC ophthalmology · 2021Article
- A novel missense mutation inTranslational pediatrics · 2021Article
- Novel compound heterozygous nonsense variants, p.L150* and p.Y3565*, of the USH2A gene in a Chinese pedigree are associated with Usher syndrome type IIA.Molecular medicine reports · 2020Article
- Identification of novel USH2A mutations in patients with autosomal recessive retinitis pigmentosa via targeted next‑generation sequencing.Molecular medicine reports · 2020Article
- Genetic and clinical findings of panel-based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa.Molecular genetics & genomic medicine · 2020Article
- Identification of 13 novel USH2A mutations in Chinese retinitis pigmentosa and Usher syndrome patients by targeted next-generation sequencing.Bioscience reports · 2020Article
- Modeling Retinitis Pigmentosa: Retinal Organoids Generated From the iPSCs of a Patient With the USH2A Mutation Show Early Developmental Abnormalities.Frontiers in cellular neuroscience · 2019Article
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Authors and funding
6 authors.
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Abstract
objectivesUSH2A encodes for usherin, a basement membrane protein in the inner ear and retina. USH2A can cause retinitis pigmentosa (RP) with or without hearing loss. The aim of this study was to detect USH2A mutations in a Chinese cohort of 75 small RP families and 10 Usher syndrome families.
methodsWe performed a direct Sanger sequencing analysis of the USH2A gene to identify mutations for this cohort.
resultsWe identified a total of eight mutations in four of the 75 small RP families (5.3%) and two mutations in one of the 10 Usher families (10%); all families were detected to have compound heterozygous mutations. In families with nonsyndromic RP, we identified the compound heterozygous mutations p.Pro4818Leuand p.Leu2395Hisfs*19 in family No. 19114, p.Arg4493His and p.His1677Glnfs*15 in family No.19162, c.8559-2A > G and p.Arg1549* in family No.19123 and p.Ser5060Pro and p.Arg34Leufs*41 in family No.19178. We also identified the heterozygous mutations p.Arg3719His and p.Cys934Trp in family No.19124, which was the Usher syndrome family. These mutations were predicted to be harmful by SIFT, PROVEAN, Mutation Taster or PolyPhen-2.
conclusionsOur results revealed six novel mutations in the USH2A gene in a Chinese population, which is beneficial for the clinical use of genetic testing of USH2A in patients with autosomal-recessive or sporadic RP and Usher syndrome.
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