We identified five novel and two recurrent mutations of the ADAR1 gene in seven Chinese families with DSH and investigated potential effects of the novel mutations in this study.
Our data suggests that R1155W missense mutation is a new mutation in exon 15 of DSRAD gene and further testify that DSRAD gene is the pathogenic gene of DSH.
Six novel mutations were found in five unrelated families and one sporadic case, which have further improved our understanding on the role of ADAR1 in DSH.
We have clarified for the first time four pathological mutations of the double-stranded RNA-specific adenosine deaminase gene (ADAR1 or DSRAD) in four DSH pedigrees.
To refine the previously mapped region that facilitates the identification of the DSH gene and to delineate the clinical and genetic features of Chinese DSH cases by a literature review of 136 cases reported in China.
This study should be useful for genetic counseling and prenatal diagnosis for affected families and in expanding the database on DSRAD gene mutations in DSH.
We reviewed a total of 48 mutations in the ADAR gene in patients with dyschromatosis symmetrica hereditaria by previous reports and speculated that the mutation hotspots on the ADAR gene might be located in exons 9-15.
This study should be useful for genetic counseling and prenatal diagnosis for affected families and in expanding the database on ADAR gene mutations in DSH.
A Chinese family with typical DSH was screened for mutation of ADAR1, and we aimed to investigate the functional significance of the identified mutation.
A three-generation family exhibiting phenotypic variability with a single germline ADAR1 mutation suggests that chilblain might aggravate the clinical phenotypes of DSH.
We performed a mutation analysis of the ADAR1 gene in 2 Chinese families with DSH and reviewed all articles published regarding ADAR1 mutations reported since 2003 by using PubMed.
The findings of this study expand our knowledge of the range of ADAR1 gene mutations in DSH and will contribute to identifying correlations between the various DSH phenotypes and genotypes.