{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T18:28:34Z","timestamp":1777660114922,"version":"3.51.4"},"reference-count":22,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2017,11,29]],"date-time":"2017-11-29T00:00:00Z","timestamp":1511913600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2017,11,29]],"date-time":"2017-11-29T00:00:00Z","timestamp":1511913600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Genetic Testing and Molecular Biomarkers"],"published-print":{"date-parts":[[2018,2,1]]},"abstract":"\n Aims:<\/jats:title>\n To identify potential novel gene mutations in Chinese patients with dyschromatosis symmetrica hereditaria (DSH).<\/jats:p>\n <\/jats:sec>\n \n Methods:<\/jats:title>\n \n We enrolled 8 Chinese patients with familial DSH, 5 Chinese patients with sporadic DSH, and 100 randomly selected healthy individuals in this study. The genome of each participant was extracted from peripheral blood samples. Sanger sequencing of the\n ADAR1<\/jats:italic>\n gene was performed after polymerase chain reaction amplifications. Comparisons between the DNA sequences of the affected individuals and the NCBI database were performed.\n <\/jats:p>\n <\/jats:sec>\n \n Results:<\/jats:title>\n \n We detected eight novel heterozygous mutations and five previously reported mutations in the\n ADAR1<\/jats:italic>\n gene in our patients. The novel mutations include c.1934\u2009+\u20093A>G, c.2749A>G, c.2311insA, c.3233G>A, c.3019\u2009+\u20091G>T, c.2894C>A, c.1202_1205del, and c.2280C>A. These detected novel mutations are predicted to induce two frame-shift mutations, one nonsense mutation, three missense mutations, and two splice-site mutations.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions:<\/jats:title>\n \n The findings of this study expand our knowledge of the range of\n ADAR1<\/jats:italic>\n gene mutations in DSH and will contribute to identifying correlations between the various DSH phenotypes and genotypes. Furthermore, they may provide insight into the underlying pathogenic mechanism.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1089\/gtmb.2017.0207","type":"journal-article","created":{"date-parts":[[2017,11,29]],"date-time":"2017-11-29T09:46:45Z","timestamp":1511948805000},"page":"104-108","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":9,"title":["Eight Novel Mutations of the\n ADAR1<\/i>\n Gene in Chinese Patients with Dyschromatosis Symmetrica Hereditaria"],"prefix":"10.1177","volume":"22","author":[{"given":"Zhuang-li","family":"Tang","sequence":"first","affiliation":[{"name":"the Second Affiliated Hospital of Xi'an Jiaotong University","place":["People's Republic of China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuang","family":"Wang","sequence":"additional","affiliation":[{"name":"the Second Affiliated Hospital of Xi'an Jiaotong University","place":["People's Republic of 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