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Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient
Mowat-Wilson syndrome (OMIM 235730) is a genetic condition characterized by moderate-to-severe intellectual disability, a recognizable facial phenotype, and multiple congenital anomalies. The striking facial phenotype in addition to other features such as severely impaired speech, hypotonia, microce...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3517822/ https://www.ncbi.nlm.nih.gov/pubmed/23243526 http://dx.doi.org/10.1155/2012/949507 |
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author | Mundhofir, Farmaditya E. P. Yntema, Helger G. van der Burgt, Ineke Hamel, Ben C. J. Faradz, Sultana M. H. van Bon, Bregje W. M. |
author_facet | Mundhofir, Farmaditya E. P. Yntema, Helger G. van der Burgt, Ineke Hamel, Ben C. J. Faradz, Sultana M. H. van Bon, Bregje W. M. |
author_sort | Mundhofir, Farmaditya E. P. |
collection | PubMed |
description | Mowat-Wilson syndrome (OMIM 235730) is a genetic condition characterized by moderate-to-severe intellectual disability, a recognizable facial phenotype, and multiple congenital anomalies. The striking facial phenotype in addition to other features such as severely impaired speech, hypotonia, microcephaly, short stature, seizures, corpus callosum agenesis, congenital heart defects, hypospadias, and Hirschsprung disease are particularly important clues for the initial clinical diagnosis. All molecularly confirmed cases with typical MWS have a heterozygous loss-of-function mutation in the zinc finger E-box protein 2 (ZEB2) gene, also called SIP1 (Smad-interacting protein 1) and ZFHX1B, suggesting that haploinsufficiency is the main pathological mechanism. Approximately 80% of mutations are nonsense and frameshift mutations (small insertions or deletions). About half of these mutations are located in exon eight. Here, we report the first Indonesian patient with Mowat-Wilson syndrome confirmed by molecular analysis. |
format | Online Article Text |
id | pubmed-3517822 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | Hindawi Publishing Corporation |
record_format | MEDLINE/PubMed |
spelling | pubmed-35178222012-12-14 Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient Mundhofir, Farmaditya E. P. Yntema, Helger G. van der Burgt, Ineke Hamel, Ben C. J. Faradz, Sultana M. H. van Bon, Bregje W. M. Case Rep Genet Case Report Mowat-Wilson syndrome (OMIM 235730) is a genetic condition characterized by moderate-to-severe intellectual disability, a recognizable facial phenotype, and multiple congenital anomalies. The striking facial phenotype in addition to other features such as severely impaired speech, hypotonia, microcephaly, short stature, seizures, corpus callosum agenesis, congenital heart defects, hypospadias, and Hirschsprung disease are particularly important clues for the initial clinical diagnosis. All molecularly confirmed cases with typical MWS have a heterozygous loss-of-function mutation in the zinc finger E-box protein 2 (ZEB2) gene, also called SIP1 (Smad-interacting protein 1) and ZFHX1B, suggesting that haploinsufficiency is the main pathological mechanism. Approximately 80% of mutations are nonsense and frameshift mutations (small insertions or deletions). About half of these mutations are located in exon eight. Here, we report the first Indonesian patient with Mowat-Wilson syndrome confirmed by molecular analysis. Hindawi Publishing Corporation 2012 2012-12-01 /pmc/articles/PMC3517822/ /pubmed/23243526 http://dx.doi.org/10.1155/2012/949507 Text en Copyright © 2012 Farmaditya E. P. Mundhofir et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Mundhofir, Farmaditya E. P. Yntema, Helger G. van der Burgt, Ineke Hamel, Ben C. J. Faradz, Sultana M. H. van Bon, Bregje W. M. Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient |
title | Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient |
title_full | Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient |
title_fullStr | Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient |
title_full_unstemmed | Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient |
title_short | Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient |
title_sort | mowat-wilson syndrome: the first clinical and molecular report of an indonesian patient |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3517822/ https://www.ncbi.nlm.nih.gov/pubmed/23243526 http://dx.doi.org/10.1155/2012/949507 |
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