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

Birnbaum, Ramon Y.; Zvulunov, Alex; Hallel-Halevy, Dafna; Cagnano, Emanuela; Finer, Gal; Ofir, Rivka; Geiger, Dan; Silberstein, Eldad; Feferman, Yael; Birk, Ohad S.

doi:10.1038/ng1813

Cited by 78 publications

(93 citation statements)

References 13 publications

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“…2 Microsatellite markers were derived from Marsheld maps. Intronic primer pairs were designed with the Primer3 (version 0.4.0) software (http://fokker.wi.mit.edu/ primer3/), based on DNA sequences obtained from UCSC Genome Browser (sequences available on request).…”

Section: Ruling Out Of Homozygosity In Loci Of Known Genesmentioning

confidence: 99%

“…3,5 A single region of homozygosity on chromosome 1p33-1p32.3 was identified, that was common to all affected individuals. Fine mapping 2,6 testing the 18 available DNA samples with polymorphic markers narrowed down the locus to 6.75 cM (7.25 Mb) between D1S2824 and D1S200, with a maximum multipoint LOD score of six calculated using SUPERLINK 4 (data not shown).…”

Section: Linkage Analysismentioning

confidence: 99%

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The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter

et al. 2011

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Desmosterolosis is a rare autosomal recessive disorder of elevated levels of the cholesterol precursor desmosterol in plasma, tissue and cultured cells. With only two sporadic cases described to date with two very different phenotypes, the clinical entity arising from mutations in 24-dehydrocholesterol reductase (DHCR24) has yet to be defined. We now describe consanguineous Bedouin kindred with four surviving affected individuals, all presenting with severe failure to thrive, psychomotor retardation, microcephaly, micrognathia and spasticity with variable degree of hand contractures. Convulsions near birth, nystagmus and strabismus were found in most. Brain MRI demonstrated significant reduction in white matter and near agenesis of corpus callosum in all. Genome-wide linkage analysis and fine mapping defined a 6.75 cM disease-associated locus in chromosome 1 (maximum multipoint LOD score of six), and sequencing of candidate genes within this locus identified in the affected individuals a homozygous missense mutation in DHCR24 leading to dramatically augmented plasma desmosterol levels. We thus establish a clear consistent phenotype of desmosterolosis (MIM 602398).

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Section: Ruling Out Of Homozygosity In Loci Of Known Genesmentioning

confidence: 99%

Section: Linkage Analysismentioning

confidence: 99%

The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter

et al. 2011

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“…Zinc-finger protein 750 (ZNF750) is a putative C2H2 zinc finger protein and is typically expressed in keratinocytes (5). It is an essential regulator of epidermal differentiation; it binds and activates the epidermal differentiation genes, including late cornified envelope 3A (LCE3A) and small proline-rich protein 1A (SPRR1a), and represses epidermal progenitor genes, including matrix metalloproteinase (MMP) 28 (6).…”

Section: Introductionmentioning

confidence: 99%

Overexpression of tumor suppressor gene ZNF750 inhibits oral squamous cell carcinoma metastasis

Yang

Pan

et al. 2017

Oncol Lett

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Abstract. Zinc-finger protein 750 (ZNF750) encodes a putative C2H2 zinc finger protein and is typically mutated or deleted in squamous cell carcinoma. The role of ZNF750 in oral squamous cell carcinoma (OSCC) remains unknown. The aim of the present study was to investigate the effects of ZNF750 overexpression in CAL-27 cells. Cell viability, and the expression of genes associated with proliferation, differentiation and the epithelial-mesenchymal transition were investigated in CAL-27 cells following ZNF750 overexpression, using Cell Counting kit-8, reverse transcription-quantitative polymerase chain reaction and western blot analysis, respectively. In addition, scratch wound, invasion and migration assays were performed. Cell viability, matrix metalloproteinase 28 expression, cyclin B1 expression and mesenchymal marker neural cadherin expression were decreased following ZNF750 overexpression compared with the control groups. ZNF750 overexpression induced the differentiation-associated genes late cornified envelope 3A and small proline-rich protein 1A and upregulated the expression of late epidermal differentiation factor Kruppel-like factor 4. Overexpression of ZNF750 in CAL-27 cells resulted in inhibition of cell invasion and migration. Taken together, these data suggest that ZNF750 may inhibit the metastasis of OSCC.

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“…12 Several genes encoding ZnF proteins have been implicated in human pathologies, such as ZNF215 in Beckwith-Wiedemann syndrome 17 (MIM 130650); ZNF41 (MIM 314995), 18 ZNF81 19 (MIM 314998), and ZNF674 20 (MIM 300573) in nonsyndromic, X-linked mental retardation or ZNF750 in Seborrhea-like dermatitis with psoriasiform elements. 21 ZNF592 is the first gene of this family found to be mutated in a cerebellar syndrome, although mutations have been described in APTX (MIM 606350), the gene mutated in oculomotorapraxia (AOA1) and encoding aprataxin, a nuclear protein with a role in DNA repair and containing one C2H2 ZnF. 22,23 The p.Gly1046Arg mutation identified in this study targets a highly conserved aa and is located within the eleventh ZnF of ZNF592.…”

Section: Resultsmentioning

confidence: 99%

CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592

et al. 2010

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

Cited by 78 publications

References 13 publications

The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter

The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter

Overexpression of tumor suppressor gene ZNF750 inhibits oral squamous cell carcinoma metastasis

CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592

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