Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis

Isolated complex III (CIII) deficiencies are among the least frequently diagnosed mitochondrial disorders. Clinical symptoms range from isolated myopathy to severe multi-systemic disorders with early death and disability. To date, we know of pathogenic variants in genes encoding five out of 10 subunits and five out of 13 assembly factors of CIII. Here we describe rare bi-allelic variants in the gene of a catalytic subunit of CIII, UQCRFS1, which encodes the Rieske iron-sulfur protein, in two unrelated individuals.

Source: The American Journal of Human Genetics - December 25, 2019 Category: Genetics & Stem Cells Authors: Mirjana Gusic, Gudrun Schottmann, Ren é G. Feichtinger, Chen Du, Caroline Scholz, Matias Wagner, Johannes A. Mayr, Chae-Young Lee, Vicente A. Yépez, Norbert Lorenz, Susanne Morales-Gonzalez, Daan M. Panneman, Agnès Rötig, Richard J.T. Rodenburg, Saski Tags: Report Source Type: research