Eight Novel Mutations of the ADAR1 Gene in Chinese Patients with Dyschromatosis Symmetrica Hereditaria

Aims: To identify potential novel gene mutations in Chinese patients with dyschromatosis symmetrica hereditaria (DSH). Methods: 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 was performed after polymerase chain reaction. Comparison between the outcomes and the NCBI database was made, thus novel mutations were identified. Results: We detected eight novel heterozygous mutations and five previously reported mutations in our patients. The novel mutations include c.1934+3A>G, c.2749A>G, c.2311insA, c.3233G>A, c.3019+1G>T, c.2894C>A, c.1202_1205del, and c.2280C>A. All these detected novel mutations consist of two frame-shift mutations, three missense mutations, one nonsense mutation, and two splice-site mutations. Conclusions: The findings of this study expand our knowledge of ADAR1 gene mutations in DSH. All of these results will contribute to identifying the correlation between the phenotypes and genotypes. Furthermore, they will help better understand and reveal the pathogenic mechanism.