OBJECTIVETo detect mutation of ADAR1 gene in a family affected with dyschromatosis symmetrica hereditaria.

METHODSClinical data and blood samples of the family were collected. Potential mutation of the ADAR1 gene were scanned in 3 patients and 3 unaffected members by PCR amplification and direct sequencing. The coding sequences of the ADAR1 were also screened in 50 normal controls.

RESULTSA frameshift mutation (c.2252insG) of the ADAR1 gene was identified in all of the 3 patients. The same mutation was not found in the 3 unaffected members and 50 normal cases.

CONCLUSIONThe frameshift mutation of ADAR1 gene (c.2252insG) is probably responsible for the disease in this family.

Adenosine Deaminase ; genetics ; Adult ; Base Sequence ; Child ; China ; DNA Mutational Analysis ; Exons ; Female ; Frameshift Mutation ; Humans ; Male ; Molecular Sequence Data ; Pedigree ; Pigmentation Disorders ; congenital ; enzymology ; genetics ; Point Mutation ; RNA-Binding Proteins ; genetics