NIH Research Festival
Oculocutaneous albinism (OCA) is an autosomal recessive disorder that is the result of a complete lack of or a reduction of melanin biosynthesis in melanocytes. There have been seven identified genes associated with the production of melanin in melanocytes. Mutations in the OCA2 gene, one of the genes pivotal in the melanin synthesis pathway, have been shown to result in a milder form of OCA. Many types of mutations have been identified in the OCA2 gene that results in albinism. In this paper, we review the clinical and molecular features of OCA2 gene mutations identified in this clinical laboratory. Better understanding of the genetic mutations of the OCA2 gene will benefit the future targeted therapies towards treating patients who have OCA2.
Scientific Focus Area: Genetics and Genomics
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