Identification and Clinical Analysis of the First Nonsense Mutation in the PSEN1 Gene in a Family With Acute Encephalopathy and Retinitis Pigmentosa

Identification and Clinical Analysis of the First Nonsense Mutation in the PSEN1 Gene in a Family With Acute Encephalopathy and Retinitis Pigmentosa

In the present study, we investigated the genetic variation in a family with acute encephalopathy and retinitis pigmentosa. Nine of 25 people in this family underwent genetic testing. Three family members, namely, the proband and the proband's two sisters, showed symptoms resembling those of me...

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Bibliographic Details
Main Authors: Chunlin You, Weike Zeng, Lingna Deng, Zhihao Lei, Xinyi Gao, Victor Wei Zhang, Yidong Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-05-01
Series:Frontiers in Neurology
Subjects:
acute encephalopathy
retinitis pigmentosa
nonsense mutation
PSEN1 gene
vision impairment
Online Access:https://www.frontiersin.org/article/10.3389/fneur.2020.00319/full

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https://www.frontiersin.org/article/10.3389/fneur.2020.00319/full

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