Missense <i>PDSS1</i> mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness
Francesca Nardecchia, Agnese De Giorgi, Flavia Palombo, Claudio Fiorini, Anna Maria De Negri, Valério Carelli, Leonardo Caporali, Vincenzo Leuzzi
Abstract
CoenzymeQ10 is one of the main cellular antioxidants and an essential lipid involved in numerous cell reactions, such as energy production and apoptosis modulation. A large number of enzymes are involved in CoQ10 biosynthesis. Mutations in the genes encoding for these enzymes cause a CoQ10 deficiency, characterized by neurological and systemic symptoms. Here we describe two young sisters with sensorineural deafness followed by optic atrophy, due to a novel homozygous pathogenic variant in PDSS1. The visual system seems to be mainly involved when the first steps of CoQ10 synthesis are impaired (PDSS1, PDSS2, and COQ2 deficiency).