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Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein

Nature Genetics volume 38, pages 749751 (2006) | Download Citation

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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.

Author information

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.

    • Ramon Y Birnbaum
    • , Gal Finer
    • , Rivka Ofir
    • , Yael Feferman
    •  & Ohad S Birk
  2. Schneider Children's Medical Center, Petah Tikva 49202, Israel.

    • Alex Zvulunov
  3. Department of Dermatology, Soroka Medical Center, Beer-Sheva, Israel.

    • Dafna Hallel-Halevy
  4. Department of Pathology, Soroka Medical Center, Beer-Sheva, Israel.

    • Emanuella Cagnano
  5. Department of Plastic Surgery, Soroka Medical Center, Beer-Sheva, Israel.

    • Eldad Silberstein
  6. Computer Science Department, Technion, Haifa 36000, Israel.

    • Dan Geiger
  7. Genetics Institute, Soroka Medical Center, Beer-Sheva 84101, Israel.

    • Ohad S Birk

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Competing interests

The authors declare no competing financial interests.

Corresponding author

Correspondence to Ohad S Birk.

Supplementary information

PDF files

  1. 1.

    Supplementary Fig. 1

    Disease phenotype (continued).

  2. 2.

    Supplementary Fig. 2

    Mutation analysis of ZNF750 exon 2.

  3. 3.

    Supplementary Table 1

    Variation in severity of cutaneous manifestations was observed among 10 affected family members studied in detail.

  4. 4.

    Supplementary Table 2

    PCR primers.

  5. 5.

    Supplementary Methods

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DOI

https://doi.org/10.1038/ng1813

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