title: Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein.
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.
authors.affiliation: 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.
authors.forename: Ramon Y
authors.initials: RY
authors.lastname: Birnbaum
authors.forename: Alex
authors.initials: A
authors.lastname: Zvulunov
authors.forename: Dafna
authors.initials: D
authors.lastname: Hallel-Halevy
authors.forename: Emanuella
authors.initials: E
authors.lastname: Cagnano
authors.forename: Gal
authors.initials: G
authors.lastname: Finer
authors.forename: Rivka
authors.initials: R
authors.lastname: Ofir
authors.forename: Dan
authors.initials: D
authors.lastname: Geiger
authors.forename: Eldad
authors.initials: E
authors.lastname: Silberstein
authors.forename: Yael
authors.initials: Y
authors.lastname: Feferman
authors.forename: Ohad S
authors.initials: OS
authors.lastname: Birk
mesh_terms: D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D012628:Dermatitis, Seborrheic / Q000235:genetics* / Q000473:pathology; D005260:Female; D016368:Frameshift Mutation; D005799:Genes, Dominant; D006801:Humans; D007557:Israel; D007585:Jews / Q000235:genetics; D008297:Male; D009018:Morocco / Q000208:ethnology; D009154:Mutation; D010375:Pedigree; D014157:Transcription Factors / Q000235:genetics*; D016335:Zinc Fingers / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; D014157:Transcription Factors