DNA-based prenatal diagnosis of plectin-deficient epidermolysis bullosa simplex associated with pyloric atresia

Background Mutations in the plectin gene (PLEC) generally lead to epidermolysis bullosa simplex (EBS) associated with muscular dystrophy. It has been recently demonstrated that PLEC mutations can also cause a different clinical subtype, EBS associated with pyloric atresia (EBS‐PA), which shows early lethality. Prenatal diagnosis (PND) of EBS‐PA using mutation screening of PLEC has not been described. Objective This study aimed to perform DNA‐based PND for an EBS‐PA family. Materials and methods The EBS‐PA proband was compound‐heterozygous for a paternal c.1350G>A splice‐site mutation and a maternal p.Q305X nonsense mutation. Genomic DNA was obtained from amniocytes taken from an at‐risk fetus of the proband’s family. Direct sequencing and restriction enzyme digestion of polymerase chain reaction products from the genomic DNA were performed. Results Mutational analysis showed that the fetus harbored both pathogenic mutations, suggesting that the fetus was a compound‐heterozygote and therefore affected with EBS‐PA. The skin sample obtained by autopsy from the abortus confirmed the absence of plectin expression at the dermal–epidermal junction. Conclusions This is the first successful DNA‐based PND for an EBA‐PA family.