Novel biallelic variants in COL7A1 cause recessive dystrophic epidermolysis bullosa.

ABSTRACT:

Background

Autosomal recessive dystrophic epidermolysis bullosa (RDEB) is an incurable and severe inherited skin disorder characterized by recurrent blistering at the sublamina densa beneath the cutaneous basement membrane. It is caused by biallelic loss-of-function mutation in the gene encoding type VII collagen (COL7A1). This study aimed to identify the causative variants of a Chinese RDEB patient and further provide prenatal diagnosis for the ongoing risk pregnancy of the proband's mother.

Methods

Clinical exome sequencing (CES) has been performed and an in-house pipeline was used to conduct a phenotype-driven data analysis. A minigene assay was used to verify the pathogenicity of a novel splice site variant in the COL7A1.

Results

Here we report two compound hetero

SUBMITTER: Yang N 

PROVIDER: S-EPMC7434731 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature