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The prevalence of causative gene mutations in patients with EOFAD has been reported in previous studies worldwide but remains unclear in China. The patients with these known mutations always show considerable clinical phenotypic variability. However, to date, there have been no detailed descriptions of the clinical phenotypes associated with these Chinese EOFAD mutations. Thus, the aim of this study was to describe all of the known mutations in three EOFAD causative genes and genotype\u2013phenotype correlations in Chinese patients with EOFAD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>We systematically searched the PubMed, MEDLINE, CNKI, VIP, and WAN\u2010FANG databases to find Chinese EOFAD mutations in reports from inception through May 2020.<\/jats:p><\/jats:sec><jats:sec><jats:title>Result<\/jats:title><jats:p>We identified 31 studies reporting mutations of three causative genes in China. 10 mutations in <jats:italic>APP<\/jats:italic> gene, 27 mutations in <jats:italic>PSEN1<\/jats:italic> gene and six mutations in <jats:italic>PSEN<\/jats:italic>2 were discovered in Chinese EOFAD. This review summarized all these probably pathogenic mutations as well as its clinical features. To the best of our knowledge, this is the first systemic review of causative gene mutations in patients with EOFAD in China.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The analysis of the genetic and clinical phenotype correlations in this review supports the idea that the clinical phenotype might be influenced by specific genetic defects. It also suggests genetic testing and genotype\u2013phenotype correlations are important for the accurate diagnosis and for understanding disease\u2010associated pathways and might also improve disease therapy and prevention.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1443","type":"journal-article","created":{"date-parts":[[2020,8,7]],"date-time":"2020-08-07T02:59:41Z","timestamp":1596769181000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["Gene mutations associated with early onset familial Alzheimer\u2019s disease in China: An overview and current status"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3019-2061","authenticated-orcid":false,"given":"Qi","family":"Qin","sequence":"first","affiliation":[{"name":"Innovation Center for Neurological Disorders Department of Neurology Xuanwu Hospital Capital Medical University Beijing 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