| Mowat-Wilson syndrome: an underdiagnosed syndrome? | |
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MedLine Citation:
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PMID: 18445050 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Mowat-Wilson syndrome (MWS) is an autosomal dominant developmental disorder with mental retardation and variable multiple congenital abnormalities due to mutations of the ZEB2 (ZFHX1B) gene at 2q22. MWS was first described in 1998 and the causative gene was delineated in 2001. Since then, 115 different mutations of ZEB2 have been published in association with this syndrome in 161 individuals. However, recent reports suggest that due to the variability of the congenital abnormalities, this syndrome may still be underdiagnosed. We report two unrelated patients with MWS where the clinical diagnosis was established only after finding of disruption of the ZEB2 gene by a balanced translocation breakpoint and an interstitial microdeletion, respectively. |
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Authors:
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E Engenheiro; R S Møller; M Pinto; G Soares; M Nikanorova; I M Carreira; R Ullmann; N Tommerup; Z Tümer |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2008-04-28 |
Journal Detail:
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Title: Clinical genetics Volume: 73 ISSN: 1399-0004 ISO Abbreviation: Clin. Genet. Publication Date: 2008 Jun |
Date Detail:
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Created Date: 2008-05-15 Completed Date: 2008-07-23 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: Denmark |
Other Details:
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Languages: eng Pagination: 579-84 Citation Subset: IM |
Affiliation:
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Wilhelm Johannsen Centre for Functional Genome Research, Institute of Molecular and Cellular Medicine, The Panum Institute, University of Copenhagen, Denmark. engenheiro@imbg.ku.dk |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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diagnosis,
genetics* Chromosome Breakage Cytogenetic Analysis Female Homeodomain Proteins / genetics* Humans Infant, Newborn Mental Retardation / diagnosis, genetics* Repressor Proteins / genetics* Syndrome |
| Chemical | |
Reg. No./Substance:
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0/Homeodomain Proteins; 0/Repressor Proteins; 0/ZEB2 protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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