FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases

Hearing loss and visual impairment in childhood have mostly genetic origins, some of them being related to sensorial neuronal defects. Here, we report on eight subjects from four independent families affected by auditory neuropathy and optic atrophy. Whole-exome sequencing revealed biallelic mutations in FDXR in affected subjects of each family. FDXR encodes the mitochondrial ferredoxin reductase, the sole human ferredoxin reductase implicated in the biosynthesis of iron-sulfur clusters (ISCs) and in heme formation.

Source: The American Journal of Human Genetics - September 28, 2017 Category: Genetics & Stem Cells Authors: Antoine Paul, Anthony Drecourt, Floriane Petit, Delphine Dupin Deguine, Christelle Vasnier, Myriam Oufadem, C écile Masson, Crystel Bonnet, Saber Masmoudi, Isabelle Mosnier, Laurence Mahieu, Didier Bouccara, Josseline Kaplan, Georges Challe, Christelle D Tags: Report Source Type: research