PMID- 33742450
OWN - NLM
STAT- MEDLINE
DCOM- 20211209
LR  - 20211214
IS  - 1873-474X (Electronic)
IS  - 0736-5748 (Linking)
VI  - 81
IP  - 4
DP  - 2021 Jun
TI  - Report of a case with ferredoxin reductase (FDXR) gene variants in a Chinese boy 
      exhibiting hearing loss, visual impairment, and motor retardation.
PG  - 364-369
LID - 10.1002/jdn.10104 [doi]
AB  - 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.
CI  - (c) 2021 International Society for Developmental Neuroscience.
FAU - Yang, Chengqing
AU  - Yang C
AD  - Department of Pediatric, the Affiliated Hospital of Qingdao University, Shandong, 
      China.
FAU - Zhang, Ying
AU  - Zhang Y
AUID- ORCID: 0000-0002-6360-6566
AD  - Department of Pediatric, the Affiliated Hospital of Qingdao University, Shandong, 
      China.
FAU - Li, Jiuwei
AU  - Li J
AD  - Department of Neurology, Beijing Children's Hospital, Capital Medical University, 
      National Center for Children's Health, Beijing, China.
FAU - Song, Zhenfeng
AU  - Song Z
AUID- ORCID: 0000-0002-7652-4893
AD  - Department of Pediatric, the Affiliated Hospital of Qingdao University, Shandong, 
      China.
FAU - Yi, Zhi
AU  - Yi Z
AD  - Department of Pediatric, the Affiliated Hospital of Qingdao University, Shandong, 
      China.
FAU - Li, Fei
AU  - Li F
AD  - Department of Pediatric, the Affiliated Hospital of Qingdao University, Shandong, 
      China.
FAU - Xue, Jiao
AU  - Xue J
AD  - Department of Pediatric, the Affiliated Hospital of Qingdao University, Shandong, 
      China.
FAU - Zhang, Wei
AU  - Zhang W
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      TX, USA.
AD  - AmCare Genomics Lab, GuangZhou, China.
FAU - Wang, Chunli
AU  - Wang C
AD  - AmCare Genomics Lab, GuangZhou, China.
LA  - eng
GR  - 201604020020/Major Medical Collaboration and Innovation Program of Guangzhou 
      Science Technology and Innovation Commission/
GR  - 201604020009/Major Medical Collaboration and Innovation Program of Guangzhou 
      Science Technology and Innovation Commission/
GR  - 2018-1202-SF-0019/Science and Technology Planning Project of Guangzhou/
PT  - Case Reports
PT  - Journal Article
DEP - 20210326
PL  - United States
TA  - Int J Dev Neurosci
JT  - International journal of developmental neuroscience : the official journal of the 
      International Society for Developmental Neuroscience
JID - 8401784
RN  - EC 1.18.1.2 (Ferredoxin-NADP Reductase)
SB  - IM
MH  - Brain/diagnostic imaging
MH  - China
MH  - Developmental Disabilities/diagnostic imaging/*genetics
MH  - Ferredoxin-NADP Reductase/*genetics
MH  - Hearing Loss/diagnostic imaging/*genetics
MH  - Humans
MH  - Infant
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - Vision Disorders/diagnostic imaging/*genetics
OTO - NOTNLM
OT  - ferredoxin reductase
OT  - hearing loss
OT  - iron-sulfur (Fe-S) clusters
OT  - motor retardation
OT  - visual impairment
EDAT- 2021/03/21 06:00
MHDA- 2021/12/15 06:00
CRDT- 2021/03/20 06:52
PHST- 2021/02/16 00:00 [revised]
PHST- 2020/08/18 00:00 [received]
PHST- 2021/03/06 00:00 [accepted]
PHST- 2021/03/21 06:00 [pubmed]
PHST- 2021/12/15 06:00 [medline]
PHST- 2021/03/20 06:52 [entrez]
AID - 10.1002/jdn.10104 [doi]
PST - ppublish
SO  - Int J Dev Neurosci. 2021 Jun;81(4):364-369. doi: 10.1002/jdn.10104. Epub 2021 Mar 
      26.