Article
Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy.
International journal of molecular sciences - 23 Jul 2021
Zeitz Christina, Méjécase Cécile, Michiels Christelle, Condroyer Christel, Wohlschlegel Juliette, Foussard Marine, Antonio Aline, Démontant Vanessa, Emmenegger Lisa, Schalk Audrey, Neuillé Marion, Orhan Elise, Augustin Sébastien, Bonnet Crystel, Estivalet Amrit, Blond Frédéric, Blanchard Steven, Andrieu Camille, Chantot-Bastaraud Sandra, Léveillard Thierry, Mohand-Saïd Saddek, Sahel José-Alain, Audo Isabelle
Abstract excerpt
The purpose of this work was to identify the gene defect underlying a relatively mild rod-cone dystrophy (RCD), lacking disease-causing variants in known genes implicated in inherited retinal disorders (IRD), and provide transcriptomic and immunolocalization data to highlight the best candidate. The DNA of the female patient originating from a consanguineous family revealed no large duplication or deletion, but...
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