Analysis of a Chinese pedigree affected with dyschromatosis symmetrica hereditaria due to a novel variant of ADAR gene

Objective: To explore the genetic basis for a Chinese pedigree affected with dyschromatosis symmetrica hereditaria (DSH).

Methods: PCR and Sanger sequencing were carried out for the proband, and suspected variant was validated by Sanger sequencing in the pedigree.

Results: The proband was found to harbor a novel variant of c.1352delA (p.N451Mfs*13) of the ADAR (NM_001111) gene. The same variant was found in her affected mother and sister, but not in her unaffected father, uncle, and 100 healthy individual.

Conclusions: The novel variant of the ADAR gene probably underlay the pathogenesis of DSH in this pedigree.