{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["St Peter C"],"funding":["NICHD NIH HHS"],"pagination":["2838"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10932183"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["25(5)"],"pubmed_abstract":["Mowat-Wilson syndrome (MWS) is a rare genetic neurodevelopmental congenital disorder associated with various defects of the zinc finger E-box binding homeobox 2 (<i>ZEB2</i>) gene. The <i>ZEB2</i> gene is autosomal dominant and encodes six protein domains including the SMAD-binding protein, which functions as a transcriptional corepressor involved in the conversion of neuroepithelial cells in early brain development and as a mediator of trophoblast differentiation. This review summarizes reported <i>ZEB2</i> gene variants, their types, and frequencies among the 10 exons of <i>ZEB2</i>. Additionally, we summarized their corresponding encoded protein defects including the most common variant, c.2083 C>T in exon 8, which directly impacts the homeodomain (HD) protein domain. This single defect was found in 11% of the 298 reported patients with MWS. This review demonstrates that exon 8 encodes at least three of the six protein domains and accounts for 66% (198/298) of the variants identified. More than 90% of the defects were due to nonsense or frameshift changes. We show examples of protein modeling changes that occurred as a result of <i>ZEB2</i> gene defects. We also report a novel pathogenic variant in exon 8 in a 5-year-old female proband with MWS. This review further explores other genes predicted to be interacting with the <i>ZEB2</i> gene and their predicted gene-gene molecular interactions with protein binding effects on embryonic multi-system development such as craniofacial, spine, brain, kidney, cardiovascular, and hematopoiesis."],"journal":["International journal of molecular sciences"],"pubmed_title":["Mowat-Wilson Syndrome: Case Report and Review of <i>ZEB2</i> Gene Variant Types, Protein Defects and Molecular Interactions."],"pmcid":["PMC10932183"],"funding_grant_id":["U54 HD061222"],"pubmed_authors":["Rafi SK","St Peter C","Hossain WA","Butler MG","Lovell S"],"additional_accession":[]},"is_claimable":false,"name":"Mowat-Wilson Syndrome: Case Report and Review of <i>ZEB2</i> Gene Variant Types, Protein Defects and Molecular Interactions.","description":"Mowat-Wilson syndrome (MWS) is a rare genetic neurodevelopmental congenital disorder associated with various defects of the zinc finger E-box binding homeobox 2 (<i>ZEB2</i>) gene. The <i>ZEB2</i> gene is autosomal dominant and encodes six protein domains including the SMAD-binding protein, which functions as a transcriptional corepressor involved in the conversion of neuroepithelial cells in early brain development and as a mediator of trophoblast differentiation. This review summarizes reported <i>ZEB2</i> gene variants, their types, and frequencies among the 10 exons of <i>ZEB2</i>. Additionally, we summarized their corresponding encoded protein defects including the most common variant, c.2083 C>T in exon 8, which directly impacts the homeodomain (HD) protein domain. This single defect was found in 11% of the 298 reported patients with MWS. This review demonstrates that exon 8 encodes at least three of the six protein domains and accounts for 66% (198/298) of the variants identified. More than 90% of the defects were due to nonsense or frameshift changes. We show examples of protein modeling changes that occurred as a result of <i>ZEB2</i> gene defects. We also report a novel pathogenic variant in exon 8 in a 5-year-old female proband with MWS. This review further explores other genes predicted to be interacting with the <i>ZEB2</i> gene and their predicted gene-gene molecular interactions with protein binding effects on embryonic multi-system development such as craniofacial, spine, brain, kidney, cardiovascular, and hematopoiesis.","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Feb","modification":"2025-04-19T05:51:51.167Z","creation":"2025-04-19T05:51:51.167Z"},"accession":"S-EPMC10932183","cross_references":{"pubmed":["38474085"],"doi":["10.3390/ijms25052838"]}}