Title: Novel Frameshift Mutations of ADAR Gene in Two Families with Dyschromatosis Symmetrica Hereditaria
Abstract: Objective To identify ADAR gene mutations in two families with dyschromatosis symmetrica hereditaria.Methods Fifteen coding exons and their flanking sequences of the ADAR gene were amplified by PCR and DNA sequencing was followed.Results Two novel frameshift mutations,c.2038insCC(p.A679fs)and c.1643delC(p.P547fs→564X),of ADAR gene were detected in the patients of these two families with dyschromatosis symmetrica hereditaria,respectively.The mutations were not detected in unaffected family members and fifty normal control individuals.Conclusion Mutations of c.2038insCC and c.1643delC of ADAR gene may be the causes of the clinical phenotype in these two families.
Publication Year: 2008
Publication Date: 2008-01-01
Language: en
Type: article
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