Abstract: A case of neonatal with Bart syndrome was reported and the genetic mutations in this patient and the parents were detected. A 40-week-old male infant presented with loss of skin in both lower limbs, feet, left wrist, and face after birth. He had no family history of Bart syndrome. The DNA analysis of the patient and parents was detected by second-generation sequencing and verified by first-generation sequencing, and the results showed that there were two mutations, c:2005C>T and c.7922G>A, in the COL7A1 gene. A mutation of c.2005C>T was from the mother, c.7922G>A from the father. The diagnosis of Bart syndrome was made. The patient was improved after symptomatic treatment.

Key words: epidermolysis bullosa, Bart syndrome, gene sequencing