ArticleJapanese journal of ophthalmology2012
Molecular analysis of Korean patients with oculocutaneous albinism.
Article in Japanese journal of ophthalmology, 2012. 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, 15 citations in OpenAlex.
- Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.Scientific reports · 2017Trial
- Genetic analyses of Vietnamese patients with oculocutaneous albinism.Journal of clinical laboratory analysis · 2022Article
- NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism.BMC genomics · 2022Article
- Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4.Scientific reports · 2021Article
- Identification and Computational Analysis of NovelFrontiers in genetics · 2020Article
- Correlation between electroretinography, foveal anatomy and visual acuity in albinism.Documenta ophthalmologica. Advances in ophthalmology · 2019Article
- Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families.Eye (London, England) · 2019Review
- Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism.Molecular genetics & genomic medicine · 2019Article
- Tyrosinase gene mutations in the Chinese Han population with OCA1.Genetics research · 2014Article
- Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).PloS one · 2014Article
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Authors and funding
4 authors at 2 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
purposeTo perform molecular analysis of five Korean patients with oculocutaneous albinism (OCA) and review the clinical and genetic characteristics of 21 Korean OCA patients.
methodsTYR, OCA2 and SLC45A2 were analyzed by direct DNA sequencing in five unrelated OCA patients who received thorough ophthalmic evaluation.
resultsWe identified three different TYR mutations in three patients (c.929dupC, R278X, and R52I), among which the latter two had been previously reported in other populations, but are reported here for the first time in a Korean context. In one patient we identified two different mutations of OCA2 [c.1784+1G>A and c.1842G>T (K614N)]. One patient was confirmed to have OCA4 by detecting two SLC45A2 mutations [c.469G>A (D157N) and c.686G>A (C229Y)]. OCA1A (66.7%) was the most common subtype in 21 Korean albinism patients, and 70% of patients were heterozygotes for 2 different mutational alleles. c.929dupC (54.8%) and R77Q (16.1%) were the most frequent mutational alleles of TYR in Koreans.
conclusionsThree mutational alleles, R278X and R52I of the TYR gene and C229Y of the SLC45A2 gene, are added to the mutational spectra of Korean patients with OCA, and we report the first Korean case of OCA2 with the OCA2 gene mutations.
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