Five novel mutations in the ADAR1 gene associated with dyschromatosis symmetrica hereditaria.

ABSTRACT:

Background

Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominantly inherited skin disease associated with mutations of ADAR1, the gene that encodes a double-stranded RNA-specific adenosine deaminase. The purpose of this study was to investigate the potential mutations in ADAR1 in seven Chinese families with DSH.

Methods

All the coding exons including adjacent intronic as well as 5' and 3' untranslated region (UTR) of ADAR1 were screened by direct sequencing. Moreover, quantitative reverse-transcription polymerase chain (qRT-PCR) and Western blot were applied to determine the pathogenic effects associated with the mutations.

Results

Molecular genetic investigations detected five novel mutations (c.556C > T, c.3001C > T, c.1936_1937insTG, c.1065_1068delGA

SUBMITTER: Liu Q 

PROVIDER: S-EPMC4105233 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature