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
  • 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.