Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Zinkfinger E-box-bindende Homeobox 2

Das ZEB2-Gen kodiert einen Transkriptionsfaktor. Mutationen führen zum autosomal rezessiven Mowat-Wilson-Syndrom.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 20 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Mowat-Wilson-Syndrom
ZEB2

Referenzen:

1.

Nagase T et al. (1998) Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.

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2.

Mowat DR et al. (1998) Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.

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3.

Wakamatsu N et al. (2001) Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease.

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4.

Cacheux V et al. (2001) Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease.

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5.

Yamada K et al. (2001) Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features.

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6.

Amiel J et al. (2001) Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

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7.

Zweier C et al. (2002) "Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene.

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8.

Yoneda M et al. (2002) Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B.

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9.

Zweier C et al. (2003) Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome.

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10.

Ishihara N et al. (2004) Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1.

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11.

McGaughran J et al. (2005) Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation.

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12.

Zweier C et al. (2006) Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype.

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13.

Heinritz W et al. (2006) A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.

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14.

Dastot-Le Moal F et al. (2007) ZFHX1B mutations in patients with Mowat-Wilson syndrome.

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15.

Ghoumid J et al. (2013) ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.

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16.

Verschueren K et al. (1999) SIP1, a novel zinc finger/homeodomain repressor, interacts with Smad proteins and binds to 5'-CACCT sequences in candidate target genes.

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17.

Remacle JE et al. (1999) New mode of DNA binding of multi-zinc finger transcription factors: deltaEF1 family members bind with two hands to two target sites.

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18.

Postigo AA et al. (2000) Differential expression and function of members of the zfh-1 family of zinc finger/homeodomain repressors.

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19.

Comijn J et al. (2001) The two-handed E box binding zinc finger protein SIP1 downregulates E-cadherin and induces invasion.

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20.

Van de Putte T et al. (2003) Mice lacking ZFHX1B, the gene that codes for Smad-interacting protein-1, reveal a role for multiple neural crest cell defects in the etiology of Hirschsprung disease-mental retardation syndrome.

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21.

Lin SY et al. (2003) Multiple tumor suppressor pathways negatively regulate telomerase.

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22.

Vandewalle C et al. (2005) SIP1/ZEB2 induces EMT by repressing genes of different epithelial cell-cell junctions.

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23.

Kato M et al. (2007) MicroRNA-192 in diabetic kidney glomeruli and its function in TGF-beta-induced collagen expression via inhibition of E-box repressors.

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24.

Van de Putte T et al. (2007) Neural crest-specific removal of Zfhx1b in mouse leads to a wide range of neurocristopathies reminiscent of Mowat-Wilson syndrome.

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25.

Verstappen G et al. (2008) Atypical Mowat-Wilson patient confirms the importance of the novel association between ZFHX1B/SIP1 and NuRD corepressor complex.

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26.

Beltran M et al. (2008) A natural antisense transcript regulates Zeb2/Sip1 gene expression during Snail1-induced epithelial-mesenchymal transition.

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27.

Park SM et al. (2008) The miR-200 family determines the epithelial phenotype of cancer cells by targeting the E-cadherin repressors ZEB1 and ZEB2.

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28.

Seuntjens E et al. (2009) Sip1 regulates sequential fate decisions by feedback signaling from postmitotic neurons to progenitors.

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29.

Renthal NE et al. (2010) miR-200 family and targets, ZEB1 and ZEB2, modulate uterine quiescence and contractility during pregnancy and labor.

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30.

El-Kasti MM et al. (2012) A novel long-range enhancer regulates postnatal expression of Zeb2: implications for Mowat-Wilson syndrome phenotypes.

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31.

Orphanet article

Orphanet ID 120593 [^]
32.

NCBI article

NCBI 9839 [^]
33.

OMIM.ORG article

Omim 605802 [^]
Update: 29. April 2019