Identification of five novel variants of ADAR1 in dyschromatosis symmetrica hereditaria by next-generation sequencing.

ABSTRACT:

Background

Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant inherited pigmentary dermatosis characterized by a mixture of hyperpigmented and hypopigmented freckles on the dorsal aspect of the distal extremities. To date, pathogenic mutations causing DSH have been identified in the adenosine deaminase acting on RNA1 gene (ADAR1), which is mapped to chromosome 1q21.

Objective

The present study aimed to investigate the underlying pathological mechanism in 14 patients with DSH from five unrelated Chinese families. Next-generation sequencing (NGS) and direct sequencing were performed on a proband with DSH to identify causative mutations. All coding, adjacent intronic, and 5'- and 3'-untranslated regions of ADAR1 were screened, and variants we

SUBMITTER: Ma Q 

PROVIDER: S-EPMC10354868 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature