Homo sapiens Exome

Hailey-Hailey disease (HHD) is a rare autosomal dominantly inherited genodermatosis, characterized by development of recurrent blisters, erosions, and crusts in the intertrigenous. It is caused by mutations inthe ATP2C1 gene encoding the secretory pathway calcium ATPase1. Our recent study employing primary humankeratinocytes derived from cutaneous lesions of HHD-patients support a role for oxidative-stress in Hailey-Hailey symptomsmanifestation [Cialfi et al., 2010]. The suggestion is that an increased level of cellular oxidative-stress in ATP2C1-defective keratinocytes may playan important role in the deregulation of critical cellular factors, that regulate a variety of cellular functions, including cell growth, survival, and proliferation. We used exome strategy to analyze candidate genes that can be associated with Hailey-Hailey disease