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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.

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Figure 1: Disease phenotype.
Figure 2: Genetic mapping, mutation identification and expression analysis.

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We deeply thank the Morris Kahn Foundation for Humanitarian Support for making this research possible.

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Correspondence to Ohad S Birk.

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The authors declare no competing financial interests.

Supplementary information

Supplementary Fig. 1

Disease phenotype (continued). (PDF 130 kb)

Supplementary Fig. 2

Mutation analysis of ZNF750 exon 2. (PDF 110 kb)

Supplementary Table 1

Variation in severity of cutaneous manifestations was observed among 10 affected family members studied in detail. (PDF 49 kb)

Supplementary Table 2

PCR primers. (PDF 59 kb)

Supplementary Methods (PDF 110 kb)

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Birnbaum, R., Zvulunov, A., Hallel-Halevy, D. et al. Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein. Nat Genet 38, 749–751 (2006).

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