Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein.
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.
Birnbaum
Ramon Y
RY
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.
Zvulunov
Alex
A
Hallel-Halevy
Dafna
D
Cagnano
Emanuella
E
Finer
Gal
G
Ofir
Rivka
R
Geiger
Dan
D
Silberstein
Eldad
E
Feferman
Yael
Y
Birk
Ohad S
OS
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
D004268:DNA-Binding Proteins; D014157:Transcription Factors