Department of Pediatric, the Affiliated Hospital of Qingdao University, Shandong, China.
Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Int J Dev Neurosci. 2021 Jun;81(4):364-369. doi: 10.1002/jdn.10104. Epub 2021 Mar 26.
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.
铁氧还蛋白还原酶（FDXR）位于 17q25.1，编码线粒体 NADPH：肾上腺酮氧化还原酶或铁氧还蛋白还原酶，是唯一参与铁硫（Fe-S）簇和血红素形成的人类铁氧还蛋白还原酶。Fe-S 簇参与酶催化、基因表达以及 DNA 复制和修复。FDXR 中的变体导致感觉神经病、损害视觉和听觉神经元。在这里，我们报告了一名患有听力损失、视力障碍和运动发育迟缓的中国男孩，其 FDXR（NM_004110）中存在两个新的复合杂合变异体，即 c.250C>T（p.P84S）和 c.634G>C（p.D212H），通过全外显子组测序鉴定。与已报道的病例相比，除听力损失和视力障碍外，该男孩的临床表现更为严重，还伴有运动发育迟缓，并在感染后婴儿期死亡。本研究扩展了我们对 FDXR 变体和相关表型的认识，并为该疾病的相关遗传缺陷提供了临床诊断的新信息。
