Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders

ABSTRACT:

Background

Genodermatoses are a broad group of disorders with specific or non-specific skin-based phenotypes, most of which are monogenic disorders. However, it’s a great challenge to make a precise molecular diagnosis because of the clinical heterogeneity. The genetic and clinical heterogeneity brings great challenges for diagnosis in dermatology. The whole exome sequencing (WES) not only expedites the discovery of the genetic variations, but also contributes to genetic counselling and prenatal diagnosis.

Materials and methods

Followed by the initial clinical and pathological diagnosis, genetic variations were identified by WES. The pathogenicity of the copy number variations (CNVs) and single-nucleotide variants (SNVs) were evaluated according to ACMG guidelines. Candid

SUBMITTER: Xintong Z 

PROVIDER: S-EPMC10440863 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature