Article
Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).
Scientific reports - 30 Jun 2017
Norman Chelsea S, O'Gorman Luke, Gibson Jane, Pengelly Reuben J, Baralle Diana, Ratnayaka J Arjuna, Griffiths Helen, Rose-Zerilli Matthew, Ranger Megan, Bunyan David, Lee Helena, Page Rhiannon, Newall Tutte, Shawkat Fatima, Mattocks Christopher, Ward Daniel, Ennis Sarah, Self Jay E
Abstract excerpt
Oculocutaneous albinism (OCA) and ocular albinism (OA) are inherited disorders of melanin biosynthesis, resulting in loss of pigment and severe visual deficits. OCA encompasses a range of subtypes with overlapping, often hypomorphic phenotypes. OCA1 is the most common cause of albinism in European populations and is inherited through autosomal recessive mutations in the Tyrosinase (TYR) gene. However, there is a...
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