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Stenton, S. ; Piekutowska-Abramczuk, D.* ; Kulterer, L. ; Kopajtich, R. ; Claeys, K.G.* ; Ciara, E.* ; Eisen, J.* ; Płoski, R.* ; Pronicka, E.* ; Malczyk, K.* ; Wagner, M. ; Wortmann, S.B. ; Prokisch, H.

Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.

Hum. Mutat. 42, 310-319 (2021)

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Ferrodoxin reductase (FDXR) deficiency is a mitochondrial disease described in recent years primarily in association with optic atrophy, acoustic neuropathy, and developmental delays. Here, we identified seven unpublished patients with FDXR deficiency belonging to six independent families. These patients show a broad clinical spectrum ranging from Leigh syndrome with early demise and severe infantile-onset encephalopathy, to milder movement disorders. In total nine individual pathogenic variants, of which seven were novel, were identified in FDXR using whole exome sequencing in suspected mitochondrial disease patients. Over 80% of these variants are missense, a challenging variant class in which to determine pathogenic consequence, especially in the setting of nonspecific phenotypes and in the absence of a reliable biomarker, necessitating functional validation. Here we implement an Arh1-null yeast model to confirm the pathogenicity of variants of uncertain significance in FDXR, bypassing the requirement for patient-derived material.

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