Biallelic mutations in USP45, encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis

Leber congenital amaurosis (LCA) is the earliest and most severe form of inherited retinal dystrophies, accounting for approximately 20% of children attending schools for the blind. Currently, the genetic defects could be identified in about 60% of families with LCA in one of the 25 causative genes, including RPE65 in which a new gene therapy has been recently approved by FDA. Identification of additional causative genes provides a potential avenue not only in the management of the rest families with LCA but also in further understanding of the pathogenesis. In this study, mutations in a new gene, USP45, have been found to cause LCA based on comparative analysis of next-generation sequencing data and additional functional studies. (By Dr. Qingjiong Zhang, https://jmg.bmj.com/content/early/2018/12/20/jmedgenet-2018-105709 )

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