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A Missense Mutation in OPA1 Causes Dominant Optic Atrophy in a Chinese Family
Joint Authors
Zhao, Jun
Mei, Shaoyi
Huang, Xiaosheng
Peng, Shiming
Zhu, Tianhui
Chen, Liang
Wang, Yan
Cheng, Lin
Source
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-10, 10 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-11-03
Country of Publication
Egypt
No. of Pages
10
Main Subjects
Abstract EN
Background.
To investigate the genetic causes and clinical characteristics of dominant optic atrophy (DOA) in a Chinese family.
Methods.
A 5-generation pedigree of 35 family members including 12 individuals affected with DOA was recruited from Shenzhen Eye Hospital, China.
Four affected family members and one unaffected family member were selected for whole exome sequencing.
Sanger sequencing was used to confirm and screen the identified mutation in 18 members of the family.
The disease-causing mutation was identified by bioinformatics analysis and confirmed by segregation analysis.
The clinical characteristics of the family members were analyzed.
Results.
A heterozygous missense mutation (c.1313A>G, p.D438G) in optic atrophy 1 (OPA1) was identified in 10 individuals affected with DOA in this family.
None of the unaffected family members had the mutation.
Patients in this family had vision loss since they were children or adolescence.
The visual acuity decreased progressively to hand movement, except for one patient (IV-12) who had relatively good vision of 20/30 and 20/28.
The fundus typically manifested as optic disc pallor.
The visual fields, optical coherence tomography, and visual evoked potential suggested variable degree of abnormality in patients.
Patients who had a history of cigarette smoking and alcohol drinking had more severe clinical manifestations.
Conclusions.
Our results suggest that the p.D438G mutation in OPA1 causes optic atrophy in this family.
The patients who carried the mutation demonstrated heterogeneous clinical manifestations in this family.
This is the first report on the c.1313A>G (p.D438G) mutation of OPA1 in a Chinese family affected with DOA.
American Psychological Association (APA)
Mei, Shaoyi& Huang, Xiaosheng& Cheng, Lin& Peng, Shiming& Zhu, Tianhui& Chen, Liang…[et al.]. 2019. A Missense Mutation in OPA1 Causes Dominant Optic Atrophy in a Chinese Family. Journal of Ophthalmology،Vol. 2019, no. 2019, pp.1-10.
https://search.emarefa.net/detail/BIM-1185102
Modern Language Association (MLA)
Mei, Shaoyi…[et al.]. A Missense Mutation in OPA1 Causes Dominant Optic Atrophy in a Chinese Family. Journal of Ophthalmology No. 2019 (2019), pp.1-10.
https://search.emarefa.net/detail/BIM-1185102
American Medical Association (AMA)
Mei, Shaoyi& Huang, Xiaosheng& Cheng, Lin& Peng, Shiming& Zhu, Tianhui& Chen, Liang…[et al.]. A Missense Mutation in OPA1 Causes Dominant Optic Atrophy in a Chinese Family. Journal of Ophthalmology. 2019. Vol. 2019, no. 2019, pp.1-10.
https://search.emarefa.net/detail/BIM-1185102
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1185102