Article
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
Annals of neurology - 1 Jul 2020
Caporali Leonardo, Magri Stefania, Legati Andrea, Del Dotto Valentina, Tagliavini Francesca, Balistreri Francesca, Nasca Alessia, La Morgia Chiara, Carbonelli Michele, Valentino Maria L, Lamantea Eleonora, Baratta Silvia, Schöls Ludger, Schüle Rebecca, Barboni Piero, Cascavilla Maria L, Maresca Alessandra, Capristo Mariantonietta, Ardissone Anna, Pareyson Davide, Cammarata Gabriella, Melzi Lisa, Zeviani Massimo, Peverelli Lorenzo, Lamperti Costanza, Marzoli Stefania B, Fang Mingyan, Synofzik Matthis, Ghezzi Daniele, Carelli Valerio, Taroni Franco
Abstract excerpt
OBJECTIVE: Dominant optic atrophy (DOA) is the most common inherited optic neuropathy, with a prevalence of 1:12,000 to 1:25,000. OPA1 mutations are found in 70% of DOA patients, with a significant number remaining undiagnosed. METHODS: We screened 286 index cases presenting optic atrophy, negative for OPA1 mutations, by targeted next generation sequencing or whole exome sequencing. Pathogenicity and molecular...
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