We have summarized a total of 48 mutations in the ADAR gene with DSH by previous reports and speculated that the mutation hotspots of ADAR gene might be located in the tRNA-specific and double-stranded RNA adenosine deaminase (ADEAMc) domain.

• 到目前为止,共发现48个DSH的A-DAR基因突变,推测ADAR基因的突变热点可能位于ADEAMc区域。