Nature Genetics 38, 749 - 751 (2006)
Published online: 4 June 2006; | doi:10.1038/ng1813
Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger proteinRamon Y Birnbaum1, Alex Zvulunov2, Dafna Hallel-Halevy3, Emanuella Cagnano4, Gal Finer1, Rivka Ofir1, Dan Geiger6, Eldad Silberstein5, Yael Feferman1 & Ohad S Birk1, 71
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. 2
Schneider Children's Medical Center, Petah Tikva 49202, Israel. 3
Department of Dermatology, Soroka Medical Center, Beer-Sheva, Israel. 4
Department of Pathology, Soroka Medical Center, Beer-Sheva, Israel. 5
Department of Plastic Surgery, Soroka Medical Center, Beer-Sheva, Israel. 6
Computer Science Department, Technion, Haifa 36000, Israel. 7
Genetics Institute, Soroka Medical Center, Beer-Sheva 84101, Israel.
Correspondence should be addressed to Ohad S Birk obirk@bgu.ac.il 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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