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Case Reports
. 2021 Jun;81(4):364-369.
doi: 10.1002/jdn.10104. Epub 2021 Mar 26.

Report of a case with ferredoxin reductase (FDXR) gene variants in a Chinese boy exhibiting hearing loss, visual impairment, and motor retardation

Chengqing Yang  1 , Ying Zhang  1 , Jiuwei Li  2 , Zhenfeng Song  1 , Zhi Yi  1 , Fei Li  1 , Jiao Xue  1 , Wei Zhang  3   4 , Chunli Wang  4
Affiliations
Case Reports

Report of a case with ferredoxin reductase (FDXR) gene variants in a Chinese boy exhibiting hearing loss, visual impairment, and motor retardation

Chengqing Yang et al. Int J Dev Neurosci. 2021 Jun.

Abstract

Ferredoxin reductase (FDXR), located in 17q25.1, encodes for a mitochondrial NADPH: adrenodoxin oxidoreductase or ferredoxin reductase, the sole human ferredoxin reductase involved in the biosynthesis of iron-sulfur (Fe-S) clusters and heme formation. Iron-sulfur (Fe-S) clusters are involved in enzymatic catalysis, gene expression, and DNA replication and repair. Variants in FDXR lead to sensorial neuropathies, damage optic, and auditory neurons. Here, we report a Chinese boy with hearing loss, visual impairment, and motor retardation, with two novel compound heterozygous variants in FDXR (NM_004110), namely, c.250C > T (p.P84S) and c.634G > C (p.D212H), identified by whole-exome sequencing. Compared with the reported cases, except hearing loss and visual impairment, the clinical manifestations of this boy were more serious, who also had motor retardation and died in infancy after infection. The present study expands our knowledge of FDXR variants and related phenotypes, and provides new information on the genetic defects associated with this disease for clinical diagnosis.

Keywords: ferredoxin reductase; hearing loss; iron-sulfur (Fe-S) clusters; motor retardation; visual impairment.

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