2. Academic Validation
  3. Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein

Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein

  • Nat Genet. 2006 Jul;38(7):749-51. doi: 10.1038/ng1813.
Ramon Y Birnbaum 1,  Alex Zvulunov,  Dafna Hallel-Halevy,  Emanuella Cagnano,  Gal Finer,  Rivka Ofir,  Dan Geiger,  Eldad Silberstein,  Yael Feferman,  Ohad S Birk
Affiliations

Affiliation

  • 1 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.
PMID: 16751772 DOI: 10.1038/ng1813
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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