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

Yang, K.; Hou, Q.; Zhang, Y.; Lou, G.; Qi, N.; Kang, B.; Zhang, B.; Liao, S.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 39(1): 64-67

2022


ISSN/ISBN: 1003-9406
PMID: 34964970
Accession: 079548469

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Abstract
To explore the genetic basis for a Chinese pedigree affected with dyschromatosis symmetrica hereditaria (DSH). PCR and Sanger sequencing were carried out for the proband, and suspected variant was validated by Sanger sequencing in the pedigree. 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. The novel variant of the ADAR gene probably underlay the pathogenesis of DSH in this pedigree.