Article
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.
American journal of human genetics - 5 Oct 2017
Paul Antoine, Drecourt Anthony, Petit Floriane, Deguine Delphine Dupin, Vasnier Christelle, Oufadem Myriam, Masson Cécile, Bonnet Crystel, Masmoudi Saber, Mosnier Isabelle, Mahieu Laurence, Bouccara Didier, Kaplan Josseline, Challe Georges, Domange Christelle, Mochel Fanny, Sterkers Olivier, Gerber Sylvie, Nitschke Patrick, Bole-Feysot Christine, Jonard Laurence, Gherbi Souad, Mercati Oriane, Ben Aissa Ines, Lyonnet Stanislas, Rötig Agnès, Delahodde Agnès, Marlin Sandrine
Abstract excerpt
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...
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