A novel homozygous deletion inEXPH5causes a skin fragility phenotype

• DOI: 10.1111/ced.12908
• Publication Date: 2016-10-13T17:33:09Z
• Authors: N. Malchin; O. Sarig; M. Grafi-Cohen; S. Geller; I. Goldberg; A. Shani; A Gat; E. Sprecher; J. Mashiah
• Keywords: Epidermolysis bullosa simplex; Sanger sequencing; Keratin 5

Epidermolysis bullosa simplex (EBS) is the most common form of EB. Eight different genes have been implicated in pathogenesis types EBS, but a substantial portion cases cannot be attributed to mutations known genes. Recently, recessive gene EXPH5 (encoding exophilin‐5, also as Slac2‐b) were identified patients affected with mild EBS. We used immunohistochemistry, Sanger sequencing and PCR–restriction fragment length polymorphism analysis identify cause congenital skin fragility 3‐year‐old girl. No detected KRT5 or KRT14, we novel homozygous deletion EXPH5, which was found cosegregate disease phenotype family. Our results further expand spectrum EXPH5. Appraisal present case against previously reported indicate that result distinctive phenotype, minimal blistering compared other forms basal