Report of a G neralized Atrophic Benign Epidermolysis Bullosa Family and COL17A1 Mutation Analysis / 中华皮肤科杂志

ABSTRACT

Objectives To report a generalized atrophic benign epidermolysis bullosa family,identify the deficient protein and related pathogenic gene mutation. Methods The diagnosis was confirmed based on clinical manifestations and necessary examinations. Electron microscopy and immunofluorescent staining were used to detect the deficient protein. The pathogenic gene mutation was identified by PCR amplification of ge-nomic DNA with primers targeting the flanking introns, followed by direct automated sequencing. Results In the family, the affected individuals were homozygous for a novel 4-bp deletion in COL17A1, 3897delATCT, which resulted in a downstream premature termination codon. Conclusions 3897delATCT of COL17A1 is the pathogenic gene mutation in the patients and probably results in nonsense-mediated mRNA decay and abrogation of type XⅦ collagen synthesis, as documented in the literature.