Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patient

Autor: Mundhofir, F.E.P., Yntema, H.G., Burgt, I. van der, Hamel, B.C.J., Faradz, S.M., van Bon, B.W.
Rok vydání: 2012
Předmět:
Zdroj: Case Reports in Genetics, 2012, pp. 949507-949507
Case Reports in Genetics, 2012, 949507-949507
ISSN: 2090-6544
Popis: Contains fulltext : 108738.pdf (Publisher’s version ) (Open Access) 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.
Databáze: OpenAIRE
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