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A Novel Potentially Causative Variant of NDUFAF7 Revealed by Mutation Screening in a Chinese Family With Pathologic Myopia.

Abstract Pathologic myopia described as myopia accompanied by severe deformation of the eye besides excessive elongation of eye, is usually a genetic heterogeneous disorder characterized by extreme, familial, early-onset vision loss. However, the exact pathogenesis of pathologic myopia remains unclear. In this study, we screened a Han Chinese family with pathologic myopia to identify the causative mutation and explore the possible pathogenic mechanism based on evaluation of the biological functions of the mutation.
PMID
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Authors

Mayor MeshTerms

Mutation, Missense

Polymorphism, Single Nucleotide

Keywords
Journal Title investigative ophthalmology & visual science
Publication Year Start




PMID- 28837730
OWN - NLM
STAT- MEDLINE
DA  - 20170824
DCOM- 20170904
LR  - 20170904
IS  - 1552-5783 (Electronic)
IS  - 0146-0404 (Linking)
VI  - 58
IP  - 10
DP  - 2017 Aug 01
TI  - A Novel Potentially Causative Variant of NDUFAF7 Revealed by Mutation Screening
      in a Chinese Family With Pathologic Myopia.
PG  - 4182-4192
LID - 10.1167/iovs.16-20941 [doi]
AB  - Purpose: Pathologic myopia described as myopia accompanied by severe deformation 
      of the eye besides excessive elongation of eye, is usually a genetic
      heterogeneous disorder characterized by extreme, familial, early-onset vision
      loss. However, the exact pathogenesis of pathologic myopia remains unclear. In
      this study, we screened a Han Chinese family with pathologic myopia to identify
      the causative mutation and explore the possible pathogenic mechanism based on
      evaluation of the biological functions of the mutation. Methods: We identified
      the mutations in a family with pathologic myopia by single nucleotide
      polymorphism array combined with short tandem repeat microsatellite marker
      analysis and exome sequencing. Mutations were validated among family members by
      direct Sanger sequencing. The subcellular localization of the protein variant was
      investigated by immunofluorescence, and the stability of the mutant protein was
      determined by immunoblotting. Intracellular levels of adenosine triphosphate and 
      reactive oxygen species and complex I activity were measured by traditional
      biochemical methods to determine the functional role of the disease-associated
      mutation. Results: The novel missense mutation: c.798C>G (p.Asp266Glu) in
      NDUFAF7, cosegregated with the disease and the resulting amino acid substitution 
      affected a highly conserved residue in its protein. The mutation D266E in NDUFAF7
      impaired complex I activity, which resulted in decreased ATP levels in cultured
      cells. Conclusions: We propose that the heterozygous mutation (c.798C>G) in
      NDUFAF7 may contribute to the pathogenesis of pathologic myopia, possibly by
      interfering with the phototransduction cascade. Mitochondrial dysfunction during 
      eye development may lead to pathologic myopia.
FAU - Wang, Baojiang
AU  - Wang B
AD  - Laboratory of Medical Genetics, Shenzhen Research Institute of Population and
      Family Planning, Shenzhen, China.
AD  - Shenzhen Center for Birth Defect Research and Prevention, Shenzhen, China.
FAU - Liu, Yongli
AU  - Liu Y
AD  - Department of Ophthalmology, The People's Hospital of Wenshan Prefecture, Wenshan
      Zhuang-Miao Autonomous Prefecture, China.
FAU - Chen, Shiguo
AU  - Chen S
AD  - Laboratory of Medical Genetics, Shenzhen Research Institute of Population and
      Family Planning, Shenzhen, China.
AD  - Shenzhen Center for Birth Defect Research and Prevention, Shenzhen, China.
FAU - Wu, Yunmiao
AU  - Wu Y
AD  - Laboratory of Medical Genetics, Shenzhen Research Institute of Population and
      Family Planning, Shenzhen, China.
AD  - Shenzhen Center for Birth Defect Research and Prevention, Shenzhen, China.
FAU - Lin, Sheng
AU  - Lin S
AD  - Laboratory of Medical Genetics, Shenzhen Research Institute of Population and
      Family Planning, Shenzhen, China.
AD  - Shenzhen Center for Birth Defect Research and Prevention, Shenzhen, China.
FAU - Duan, Yongheng
AU  - Duan Y
AD  - Laboratory of Medical Genetics, Shenzhen Research Institute of Population and
      Family Planning, Shenzhen, China.
AD  - Shenzhen Center for Birth Defect Research and Prevention, Shenzhen, China.
FAU - Zheng, Kaifeng
AU  - Zheng K
AD  - Laboratory of Medical Genetics, Shenzhen Research Institute of Population and
      Family Planning, Shenzhen, China.
AD  - Shenzhen Center for Birth Defect Research and Prevention, Shenzhen, China.
FAU - Zhang, Linghua
AU  - Zhang L
AD  - Laboratory of Medical Genetics, Shenzhen Research Institute of Population and
      Family Planning, Shenzhen, China.
FAU - Gu, Xueying
AU  - Gu X
AD  - Laboratory of Medical Genetics, Shenzhen Research Institute of Population and
      Family Planning, Shenzhen, China.
FAU - Hong, Wenxu
AU  - Hong W
AD  - Laboratory of Medical Genetics, Shenzhen Research Institute of Population and
      Family Planning, Shenzhen, China.
FAU - Shao, Hao
AU  - Shao H
AD  - Laboratory of Medical Genetics, Shenzhen Research Institute of Population and
      Family Planning, Shenzhen, China.
FAU - Zeng, Xuchun
AU  - Zeng X
AD  - Laboratory of Medical Genetics, Shenzhen Research Institute of Population and
      Family Planning, Shenzhen, China.
FAU - Sun, Bi
AU  - Sun B
AD  - Department of Ophthalmology, The People's Hospital of Wenshan Prefecture, Wenshan
      Zhuang-Miao Autonomous Prefecture, China.
FAU - Duan, Shan
AU  - Duan S
AD  - Laboratory of Medical Genetics, Shenzhen Research Institute of Population and
      Family Planning, Shenzhen, China.
AD  - Shenzhen Center for Birth Defect Research and Prevention, Shenzhen, China.
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Invest Ophthalmol Vis Sci
JT  - Investigative ophthalmology & visual science
JID - 7703701
RN  - 0 (Reactive Oxygen Species)
RN  - 8L70Q75FXE (Adenosine Triphosphate)
RN  - EC 1.6.5.3 (Electron Transport Complex I)
RN  - EC 1.6.5.3 (NDUFAF7 protein, human)
RN  - EC 1.6.99.3 (NADH Dehydrogenase)
SB  - IM
MH  - Adenosine Triphosphate/metabolism
MH  - Aged
MH  - Asian Continental Ancestry Group/genetics
MH  - Cells, Cultured
MH  - China/epidemiology
MH  - DNA Mutational Analysis
MH  - Electron Transport Complex I/metabolism
MH  - Female
MH  - Fluorescent Antibody Technique, Indirect
MH  - Genotyping Techniques
MH  - Humans
MH  - Male
MH  - Microsatellite Repeats
MH  - Microscopy, Confocal
MH  - Middle Aged
MH  - Mitochondria/enzymology
MH  - *Mutation, Missense
MH  - Myopia, Degenerative/*genetics/metabolism
MH  - NADH Dehydrogenase/*genetics/metabolism
MH  - Pedigree
MH  - *Polymorphism, Single Nucleotide
MH  - Reactive Oxygen Species/metabolism
MH  - Retinal Pigment Epithelium/metabolism
EDAT- 2017/08/25 06:00
MHDA- 2017/09/05 06:00
CRDT- 2017/08/25 06:00
AID - 2650870 [pii]
AID - 10.1167/iovs.16-20941 [doi]
PST - ppublish
SO  - Invest Ophthalmol Vis Sci. 2017 Aug 1;58(10):4182-4192. doi:
      10.1167/iovs.16-20941.