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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Acknowledgements
We deeply thank the Morris Kahn Foundation for Humanitarian Support for making this research possible.
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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)
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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). https://doi.org/10.1038/ng1813
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DOI: https://doi.org/10.1038/ng1813
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