KMID : 1189120140110020079
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´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö 2014 Volume.11 No. 2 p.79 ~ p.82
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A case of Mowat-Wilson syndrome with developmental delays and Hirschsprung¡¯s disease
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Lee Da-Rae
Kim Ja-Hye Cho Ja-Hyang Oh Moon-Yun Lee Beom-Hee Kim Gu-Hwan Choi Jin-Ho Yoo Han-Wook
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Abstract
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Mowat-Wilson syndrome is an extremely rare genetic disease that is characterized by intellectual disability, facial dysmorphism, Hirschsprung¡¯s disease, and other congenital anomalies. This disorder is caused by heterozygous mutations or deletions in the zinc finger E-box-binding homeobox-2 gene (ZEB2). Thus far, approximately 200 cases of Mowat-Wilson syndrome have been reported worldwide. In Korea, only one case with a 2q22 deletion, which also affects ZEB2, has been previously reported. Here, we describe a patient with Mowat-Wilson syndrome who presented with developmental delays, typical facial dysmorphism, and Hirschsprung¡¯s disease. Molecular analysis of ZEB2 identified a novel heterozygous mutation at c.190dup (p.S64Kfs*6). To our knowledge, this is the second report of a Korean patient with Mowat-Wilson syndrome that has been confirmed genetically.
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KEYWORD
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Mowat-Wilson syndrome, Hirschsprung disease, ZEB2
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