biostudies-literatureUnknown10Wang YShandong Provincial Population and Family Planning Commission<h4>Background</h4>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 the causative genetic variants and further perform genetic diagnosis in a Chinese family affected by DEB.<h4>Methods</h4>High-throughput sequencing was performed to analyze the genetic skin disorder-related genes of parents of the proband, and the variants were further confirmed in the other members by Sanger sequencing. Sanger sequencing, karyotype analysis, and chromosomal microarray analysis (CMA) were used together for prenatal diagnosis after the second pregnancy. The phenotype of the fetus was tracked after the diagnosis and induction of labor. Moreover, skin and muscFrontiers in pediatrics941201https://www.ebi.ac.uk/biostudies/studies/S-EPMC9676484biostudies-literatureGenetic analysis and prenatal diagnosis of recessive dystrophic epidermolysis bullosa caused by compound heterozygous variants of the <i>COL7A1</i> gene in a Chinese family.PMC9676484Ji SSun PYang RZhang LWang YZhao JSong ZLi NfalseGenetic analysis and prenatal diagnosis of recessive dystrophic epidermolysis bullosa caused by compound heterozygous variants of the <i>COL7A1</i> gene in a Chinese family.<h4>Background</h4>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 the causative genetic variants and further perform genetic diagnosis in a Chinese family affected by DEB.<h4>Methods</h4>High-throughput sequencing was performed to analyze the genetic skin disorder-related genes of parents of the proband, and the variants were further confirmed in the other members by Sanger sequencing. Sanger sequencing, karyotype analysis, and chromosomal microarray analysis (CMA) were used together for prenatal diagnosis after the second pregnancy. The phenotype of the fetus was tracked after the diagnosis and induction of labor. Moreover, skin and musc2022-01-01T00:00:00Z20222026-04-08T11:02:42.474Z2024-11-07T00:52:33.899ZS-EPMC96764843641991510.3389/fped.2022.941201