Recessive MECR pathogenic variants cause an LHON-like optic neuropathy.

Claudio FioriniAndrea DegiorgiMaria Lucia CascavillaConcetta Valentina TropeanoChiara La MorgiaMarco BattistaDanara OrmanbekovaFlavia PalomboMichele CarbonelliFrancesco BandelloValerio CarelliAlessandra MarescaPiero BarboniEnrico Baruffini Leonardo Caporali

Published in: Journal of medical genetics (2023)

We report the first family with homozygous MECR variant causing an LHON-like optic neuropathy, which pairs the recent MCAT findings, reinforcing the impairment of mtFAS as novel pathogenic mechanism in LHON.

Keyphrases

copy number
intellectual disability
muscular dystrophy
autism spectrum disorder
dna methylation
genome wide