Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.

doi:10.1016/j.ajhg.2015.09.012

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Article

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.

American journal of human genetics - 5 Nov 2015

Angebault Claire, Guichet Pierre-Olivier, Talmat-Amar Yasmina, Charif Majida, Gerber Sylvie, Fares-Taie Lucas, Gueguen Naig, Halloy François, Moore David, Amati-Bonneau Patrizia, Manes Gael, Hebrard Maxime, Bocquet Béatrice, Quiles Mélanie, Piro-Mégy Camille, Teigell Marisa, Delettre Cécile, Rossel Mireille, Meunier Isabelle, Preising Markus, Lorenz Birgit, Carelli Valerio, Chinnery Patrick F, Yu-Wai-Man Patrick, Kaplan Josseline, Roubertie Agathe, Barakat Abdelhamid, Bonneau Dominique, Reynier Pascal, Rozet Jean-Michel, Bomont Pascale, Hamel Christian P, Lenaers Guy

Abstract excerpt

Autosomal-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...

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Identifiers

PMID: 26593267
DOI: 10.1016/j.ajhg.2015.09.012
PMCID: PMC4667133

Genes

ACO2
RTN4

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