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.
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Recent genetic studies in humans and animals suggest that disrupted barrier function may even directly cause SD-like conditions.
“Recent genetic studies in humans and animals suggest that disrupted barrier function may even directly cause SD-like conditions [71].”
From Seborrheic Dermatitis and Dandruff: A Comprehensive Review (2015) · cites this paper as [71]
A frame-shift mutation in ZNF750, a transcription factor controlling epidermal differentiation and an upstream regulator of MPZL3, caused autosomal dominant seborrhea-like dermatitis in patients.
“Interestingly, a frame-shift mutation in ZNF750, a transcription factor controlling epidermal differentiation and an upstream regulator of MPZL3, caused autosomal dominant seborrhea-like dermatitis in patients [71,86].”
From Seborrheic Dermatitis and Dandruff: A Comprehensive Review (2015) · cites this paper as [71]
Cites
Faergemann, J., Bergbrant, I.-M., Dohsé, M., Scott, A., & Westgate, G. (2001) · British Journal of Dermatology · doi:10.1046/j.1365-2133.2001.04082.x · Cited by 173 · see citing works
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Seborrheic Dermatitis and Dandruff: A Comprehensive Review
(2015) · Journal of Clinical and Investigative Dermatology · doi:10.13188/2373-1044.1000019 · Cited by 398 · see citing works
ZNF750 is a p63 target gene that induces KLF4 to drive terminal epidermal differentiation
Sen, G. L., Boxer, L. D., Webster, D. E., Bussat, R. T., Qu, K., Zarnegar, B. J., Johnston, D., Siprashvili, Z., & Khavari, P. A. (2012) · Developmental Cell · doi:10.1016/j.devcel.2011.12.001 · Cited by 246 · see citing works
A LncRNA-MAF:MAFB transcription factor network regulates epidermal differentiation
Lopez-Pajares, V., Qu, K., Zhang, J., Webster, D. E., Barajas, B. C., Siprashvili, Z., Zarnegar, B. J., Boxer, L. D., Rios, E. J., Tao, S., et al. (2015) · Developmental Cell · doi:10.1016/j.devcel.2015.01.028 · Cited by 194 · see citing works
Boxer, L. D., Barajas, B., Tao, S., Zhang, J., & Khavari, P. A. (2014) · Genes & Development · doi:10.1101/gad.246579.114 · Cited by 147 · see citing works
- Authors
- Birnbaum, R. Y., Zvulunov, A., Hallel-Halevy, D., Cagnano, E., Finer, G., Ofir, R., Geiger, D., Silberstein, E., Feferman, Y., & Birk, O. S.
- Affiliations
- Ben-Gurion University of the Negev (IL)
- Schneider Children's Medical Center (IL)
- Soroka Medical Center (IL)
- Technion – Israel Institute of Technology (IL)
- Corresponding author
- Birk, Ohad S
- Venue
- Nature Genetics
- Published
- 2006-06-04
- Volume
- 38
- Issue
- 7
- Pages
- 749-751
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2003768155
- Cited by
- 85
- References
- 1
- Citations by year
- 2026: 4 · 2025: 5 · 2024: 7 · 2023: 7 · 2022: 3 · 2021: 5 · 2020: 6 · 2019: 2 · 2018: 1 · 2017: 8 · 2016: 6 · 2015: 5 · 2014: 3 · 2013: 1 · 2012: 6
- FWCI
- 1.23
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- University of California, Santa Cruz
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
- Life Sciences › Immunology and Microbiology › Immunology › Psoriasis: Treatment and Pathogenesis
- Health Sciences › Medicine › Epidemiology › Nail Diseases and Treatments
- Keywords
- psoriasiform dermatosis, ZNF750, C2H2 zinc finger proteins, frameshift mutation, autosomal dominant inheritance, keratinocyte proliferation, parakeratosis, follicular plugging, Pityrosporum ovale, gene mapping
- MeSH terms
- Chromosomes, Human, Pair 17, DNA-Binding Proteins, Female, Genes, Dominant, Humans, Israel, Jews, Male, Morocco, Mutation, Pedigree, Dermatitis, Seborrheic, Transcription Factors, Zinc Fingers, Frameshift Mutation
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