Mowat-Wilson Syndrome : The First Clinical and Molecular Report of an Indonesian Patient
Joint Authors
van der Burgt, Ineke
Mundhofir, Farmaditya E. P.
Faradz, Sultana M. H.
van Bon, Bregje W. M.
Yntema, Helger G.
Hamel, Ben C. J.
Source
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-12-01
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Mundhofir, Farmaditya E. P.& Yntema, Helger G.& van der Burgt, Ineke& Hamel, Ben C. J.& Faradz, Sultana M. H.& van Bon, Bregje W. M.. 2012. Mowat-Wilson Syndrome : The First Clinical and Molecular Report of an Indonesian Patient. Case Reports in Genetics،Vol. 2012, no. 2012, pp.1-3.
https://search.emarefa.net/detail/BIM-510666
Modern Language Association (MLA)
Mundhofir, Farmaditya E. P.…[et al.]. Mowat-Wilson Syndrome : The First Clinical and Molecular Report of an Indonesian Patient. Case Reports in Genetics No. 2012 (2012), pp.1-3.
https://search.emarefa.net/detail/BIM-510666
American Medical Association (AMA)
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. Case Reports in Genetics. 2012. Vol. 2012, no. 2012, pp.1-3.
https://search.emarefa.net/detail/BIM-510666
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-510666