DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics. Issue 6 (30th April 2013) - Simeonov, Dimitre R.
Abstract Isolated oculocutaneous albinism (OCA) is an autosomal recessive condition causing low vision and hypopigmentation. The article provides a mutation update for the OCA genes and discusses several challenging aspects of OCA molecular diagnostics, including the temperature sensitive TYR p.R402Q mutation, OCA‐1 subtyping and the presence of a substantial minority of affected individuals with apparent missing heritability. A comprehensive list of previously reported mutations is provided as supplementary material, and includes collated ethnicity information, carrier frequencies, and in silico pathogenicity predictions.