Genetic analysis and prenatal diagnosis of recessive dystrophic epidermolysis bullosa caused by compound heterozygous variants of the COL7A1 gene in a Chinese family

• DOI: 10.3389/fped.2022.941201
• Publication Date: 2022-11-07T05:49:17Z
• Authors: Yu Wang; Zhen Song; Lihua Zhang; Na Li; Jie Zhao; Ruifang Yang; Shuhua Ji; Ping Sun
• Keywords: Sanger sequencing; Compound heterozygosity; Proband; Genetic Analysis

Dystrophic epidermolysis bullosa (DEB) is an incurable and inherited skin disorder mainly caused by mutations in the gene encoding type VII collagen (COL7A1). The purpose of this study was to identify causative genetic variants further perform diagnosis a Chinese family affected DEB.High-throughput sequencing performed analyze disorder-related genes parents proband, were confirmed other members Sanger sequencing. sequencing, karyotype analysis, chromosomal microarray analysis (CMA) used together for prenatal after second pregnancy. phenotype fetus tracked induction labor. Moreover, muscle pathological examination whole-exome (WES) tissue induced performed.Here, we determined two heterozygous COL7A1 that contributed autosomal recessive DEB (RDEB) family, i.e., novel pathogenic variant (c.8335G > T, p.E2779*) likely (c.7957G A, p.G2653R). amniotic fluid cells showed carried above compound variants, CMA results no abnormality. clinical consistent with characteristics DEB. Further, WES also variation COL7A1, consisting namely, c.8335G T c.7957G A fetus.This expands spectrum disease-causing provides theoretical basis diagnosis, counseling, prognosis families RDEB.