Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy.

Sylvie GerberLola LessardCécile RouzierSamira Ait-El-Mkadem SaadiRoxana AmeliStéphane ThoboisLucie AbouafFrançoise BouhourJosseline KaplanAudrey PutouxAntoine PegatJean-Michel Rozet

Published in: EMBO molecular medicine (2023)

Gerber et al report 2 autosomal recessive pathogenic Misato homolog 1 (MSTO1) variants causing hereditary optic atrophy and raise concerns about a previously identified dominant variant of MSTO1 by Gal et al (2017).

Keyphrases

copy number
optical coherence tomography
intellectual disability
optic nerve
muscular dystrophy
autism spectrum disorder
genome wide