A missense mutation c.G2747A (p.R916Q) of ADAR1 gene in dyschromatosis symmetrica hereditaria is not a novel mutation

Abstract

Dyschromatosis symmetrica hereditaria (DSH: OMIM no. 127400) is a rare pigmentary genodermatosis predominantly seen in Asia, including Japan, Taiwan and China. It is inherited in autosomal dominant manner and has high penetrance. Its clinical manifestations are intermingled hypoand hyperpigmented macules on the dorsal aspects of hands, feet and the face, and they appear in infancy or early childhood [3]. We have shown that adenosine deaminase acting on RNA1 (ADAR1), also known as the double-stranded RNAspeciWc adenosine deaminase (DSRAD), is the responsible gene for DSH [1] and around 90 of various mutations have been reported. We have been making the database of ADAR1 gene mutations reported to date. Figure 1 shows the schematic mutations. We have read an article described by Xu et al. [4] that they reported two “novel” mutations of ADAR1, c.G2747A leading to p.R916Q in exon 9 and c.C3124T leading to p.R1042C in exon 12, respectively. The latter c.C3124T (p.R1042C) is certainly a novel mutation; however, former mutation c.G2747A (p.R916Q) has already been reported by our group [2]. We would be very grateful if the editor will check them and let the author correct the statement. We really appreciate your kindly cooperation. Although many mutations of ADAR1 have been detected, the pathogenesis and mechanism of onset of DSH have not been elucidated yet. Further investigations are needed to clarify them.