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...
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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2012/949507 |
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| author | Farmaditya E. P. Mundhofir Helger G. Yntema Ineke van der Burgt Ben C. J. Hamel Sultana M. H. Faradz Bregje W. M. van Bon |
| author_facet | Farmaditya E. P. Mundhofir Helger G. Yntema Ineke van der Burgt Ben C. J. Hamel Sultana M. H. Faradz Bregje W. M. van Bon |
| author_sort | Farmaditya E. P. Mundhofir |
| collection | DOAJ |
| 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 | Article |
| id | doaj-art-da8c3478c41b4f4dabda914816dbe280 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-da8c3478c41b4f4dabda914816dbe2802025-02-03T05:51:39ZengWileyCase Reports in Genetics2090-65442090-65522012-01-01201210.1155/2012/949507949507Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian PatientFarmaditya E. P. Mundhofir0Helger G. Yntema1Ineke van der Burgt2Ben C. J. Hamel3Sultana M. H. Faradz4Bregje W. M. van Bon5Division of Human Genetics, Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University GSG, 2nd Floor Jl. Dr. Sutomo 14, Semarang, IndonesiaDepartment of Human Genetics, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The NetherlandsDepartment of Human Genetics, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The NetherlandsDepartment of Human Genetics, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The NetherlandsDivision of Human Genetics, Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University GSG, 2nd Floor Jl. Dr. Sutomo 14, Semarang, IndonesiaDepartment of Human Genetics, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The NetherlandsMowat-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.http://dx.doi.org/10.1155/2012/949507 |
| spellingShingle | Farmaditya E. P. Mundhofir Helger G. Yntema Ineke van der Burgt Ben C. J. Hamel Sultana M. H. Faradz Bregje W. M. van Bon Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient Case Reports in Genetics |
| 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 |
| url | http://dx.doi.org/10.1155/2012/949507 |
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