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Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein
Authors:Birnbaum Ramon Y  Zvulunov Alex  Hallel-Halevy Dafna  Cagnano Emanuella  Finer Gal  Ofir Rivka  Geiger Dan  Silberstein Eldad  Feferman Yael  Birk Ohad S
Institution:The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva 84105, Israel.
Abstract:We describe an Israeli Jewish Moroccan family presenting with autosomal dominant seborrhea-like dermatosis with psoriasiform elements, including enhanced keratinocyte proliferation, parakeratosis, follicular plugging, Pityrosporum ovale overgrowth and dermal CD4 lymphocyte infiltrate. We mapped the disease gene to a 0.5-cM region overlapping the PSORS2 locus (17q25) and identified a frameshift mutation in ZNF750, which encodes a putative C2H2 zinc finger protein. ZNF750 is normally expressed in keratinocytes but not in fibroblasts and is barely detectable in CD4 lymphocytes.
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