AI Article Synopsis
- Oculocutaneous albinism (OCA) is a rare genetic disorder causing reduced pigmentation in skin, hair, and eyes, with OCA type 6 linked to mutations in the SLC24A5 gene.
- A study identified two new harmful mutations in the SLC24A5 gene from two unrelated Chinese patients, adding to the knowledge of OCA6 in this population.
- The mutations found in Chinese patients differ significantly from those in other populations, which can help with genetic diagnosis and counseling for OCA6 in China.
Article Abstract
Oculocutaneous albinism (OCA) is a rare and heterogeneous disorder characterized by hypopigmentation of the skin, hair and eyes. Thirty OCA type 6 (OCA6) patients with 24 mutations in SLC24A5 have been reported across various populations; however, only one patient has been identified in a Chinese population. This study identifies two novel SLC24A5 frame-shift variants in two unrelated Chinese patients and both are predicted to be pathogenic by American College of Medical Genetics guidelines. The genotypes and phenotypes of all three Chinese OCA6 patients are unique compared with those identified in other populations. All of the mutations identified to date in Chinese OCA6 patients are predicted to be non-functional, a finding that is useful in guiding genetic diagnosis and counseling for OCA6 in China.
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| http://dx.doi.org/10.1111/1346-8138.15065 | DOI Listing |
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Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism.
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Background: Oculocutaneous albinism (OCA) could be either non-syndromic or syndromic. There are significant challenges in clinically recognizing and differentiating Hermansky-Pudlak syndrome (HPS) from non-syndromic OCA.
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Impact of a SLC24A5 variant on the retinal pigment epithelium of a Japanese patient with oculocutaneous albinism type 6.
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March 2022
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Article Synopsis
- Oculocutaneous albinism (OCA) 6 is a genetic condition linked to the SLC24A5 gene, which affects eye color and skin pigmentation, displaying distinct eye symptoms and varied skin pigmentation levels.
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View Article and Find Full Text PDFIdentification of two Chinese oculocutaneous albinism type 6 patients and mutation updates of the SLC24A5 gene.
J Dermatol
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Article Synopsis
- Oculocutaneous albinism (OCA) is a rare genetic disorder causing reduced pigmentation in skin, hair, and eyes, with OCA type 6 linked to mutations in the SLC24A5 gene.
- A study identified two new harmful mutations in the SLC24A5 gene from two unrelated Chinese patients, adding to the knowledge of OCA6 in this population.
- The mutations found in Chinese patients differ significantly from those in other populations, which can help with genetic diagnosis and counseling for OCA6 in China.
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