Variants in the human double-stranded RNA editing enzyme ADAR produce three well-characterized rare Mendelian Diseases: Dyschromatosis Symmetrica Hereditaria (OMIM: 127400), Aicardi-Goutières syndrome (OMIM: 615010) and Bilateral Striatal Necrosis/Dystonia.
Dyschromatosis symmetrica hereditaria (DSH;OMIM: #127400) is a rare autosomal dominant skin disease of hyperpigmented and hypopigmented macules on the dorsal aspects of the feet and hands.
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.
Factor 3 score of the BIS-11 (novelty seeking) was correlated with DSH in both boys and girls, whereas factor 2 score (lack of self-control) was correlated with SA in boys.
ASH-P relative to AO-C was associated with greater improvements in most family process variables (perceptions of communication and parental disapproval of alcohol use and sexual behavior) as well as less DSH and greater refusal of sex to avoid a sexually transmitted infection.
ASH-P relative to AO-C was associated with greater improvements in most family process variables (perceptions of communication and parental disapproval of alcohol use and sexual behavior) as well as less DSH and greater refusal of sex to avoid a sexually transmitted infection.
Two previous experiments showed that a relatively high-dose of alcohol increases the likelihood of engaging in DSH in men, with DSH defined by the self-administration of a "painful" shock (the self-aggression paradigm [SAP]; Berman & Walley, 2003; McCloskey & Berman, 2003).
Two previous experiments showed that a relatively high-dose of alcohol increases the likelihood of engaging in DSH in men, with DSH defined by the self-administration of a "painful" shock (the self-aggression paradigm [SAP]; Berman & Walley, 2003; McCloskey & Berman, 2003).
A three-generation family exhibiting phenotypic variability with a single germline ADAR1 mutation suggests that chilblain might aggravate the clinical phenotypes of DSH.
Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant cutaneous disorder caused by the mutations of adenosine deaminase acting on RNA1 (ADAR1) gene.
Two novel DSRAD mutations, p.G1047D and p.Y587C, were found in Chinese patients with DSH and our data add new variants to the knowledge of DSRAD mutations in DSH.
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.
A Chinese family with typical DSH was screened for mutation of ADAR1, and we aimed to investigate the functional significance of the identified mutation.
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.
Because ADAR1 plays various important roles in human tissue, we believe that a clarification of the pathogenesis of DSH will promote the understanding of the physiological functions of ADAR1, which will have significant scientific implications.