[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.

CONCLUSION

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