Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

Abstract

(The American Journal of Human Genetics 97, 754–760; November 5, 2015) In the original version of this article published online October 22, 2015, Markus Preising’s last name was unfortunately misspelled. It appears correctly here and is now correct in both the online and print versions. The authors regret the error. Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic NeuropathiesAngebault et al.The American Journal of Human GeneticsOctober 22, 2015In BriefAutosomal-recessive optic neuropathies are rare blinding conditions related to retinal ganglion cell (RGC) and optic-nerve degeneration, for which only mutations in TMEM126A and ACO2 are known. In four families with early-onset recessive optic neuropathy, we identified mutations in RTN4IP1, which encodes a mitochondrial ubiquinol oxydo-reductase. RTN4IP1 is a partner of RTN4 (also known as NOGO), and its ortholog Rad8 in C. elegans is involved in UV light response. Analysis of fibroblasts from affected individuals with a RTN4IP1 mutation showed loss of the altered protein, a deficit of mitochondrial respiratory complex I and IV activities, and increased susceptibility to UV light. Full-Text PDF Open Archive