Novel Point Mutation of EBSS Gene Coexisted with 1p36 Deletion

ABSTRACT

EBSS (epidermolysis bullosa simplex superficialis) is mainly caused by gene mutations which targeted protein as plakophilin-1, desmoplakin and keratins. 1p36 gene deleted could cause typical clinical manifestations and might also affect the expression of functional genes in other regions. Here we reported the first case of PKP1 gene and DSP gene mutation coexisted with 1p36 deletion presented as serious EBSS and 1p36 deletion syndromes and identified a new homozygous mutation in the PKP1 gene (chr1201292246 c.1672 T＞C) and in the DSP gene (chr67580346 c.3923C＞T).