You Chunlin, Zeng Weike, Deng Lingna, Lei Zhihao, Gao Xinyi, Zhang Victor Wei, Wang Yidong
Department of Neurology, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China.
Department of Neurology, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.
Front Neurol. 2020 May 5;11:319. doi: 10.3389/fneur.2020.00319. eCollection 2020.
In the present study, we investigated the genetic variation in a family with acute encephalopathy and retinitis pigmentosa. 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 meningoencephalitis and simultaneously suffered from retinitis pigmentosa. Whole-exome sequencing and Sanger sequencing identified a heterozygous mutation, chr14: 73673106 c.881G>A (p.W294), in the presenilin 1 () gene in these three family members, and the SWISS-MODEL server predicted the formation of a truncated protein. This mutation was not found in the asymptomatic family members. This mutation is a newly discovered nonsense mutation that results in a truncated protein. Although the current genetic evidences may indicate the likelihood of association, further investigations are needed to establish the genotype and phenotype relationship.
在本研究中，我们调查了一个患有急性脑病和色素性视网膜炎的家族的基因变异情况。该家族的25人接受了基因检测。三名家庭成员，即先证者及其两个姐妹，表现出类似脑膜脑炎的症状，同时患有色素性视网膜炎。全外显子组测序和桑格测序在这三名家庭成员的早老素1（PSEN1）基因中鉴定出一个杂合突变，chr14:73673106 c.881G>A（p.W294），并且SWISS-MODEL服务器预测会形成截短蛋白。在无症状的家庭成员中未发现该突变。此突变是新发现的导致截短蛋白的无义突变。尽管目前的基因证据可能表明存在关联的可能性，但仍需要进一步研究来确定基因型和表型的关系。
