A case of Mowat?Wilson syndrome with developmental delays and Hirschsprung’s disease

Mowat-Wilson syndrome is an extremely rare genetic disease that is characterized by intellectual disability, facialdysmorphism, Hirschsprung’s disease, and other congenital anomalies. This disorder is caused by heterozygous mutationsor deletions in the zinc finger E-box-binding homeobox-2 gene (ZEB2...

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Published inJournal of genetic medicine Vol. 11; no. 2; pp. 79 - 82
Main Authors Lee, Darae, Kim, Ja Hye, Cho, Ja Hyang, Oh, Moon-Yun, Lee, Beom Hee, Kim, Gu-Hwan, Choi, Jin-Ho, Yoo, Han-Wook
Format Journal Article
LanguageEnglish
Published 대한의학유전학회 31.12.2014
Subjects
의학일반
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ISSN1226-1769
2383-8442
DOI10.5734/JGM.2014.11.2.79

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Summary:Mowat-Wilson syndrome is an extremely rare genetic disease that is characterized by intellectual disability, facialdysmorphism, Hirschsprung’s disease, and other congenital anomalies. This disorder is caused by heterozygous mutationsor deletions in the zinc finger E-box-binding homeobox-2 gene (ZEB2). Thus far, approximately 200 cases of Mowat-Wilsonsyndrome have been reported worldwide. In Korea, only one case with a 2q22 deletion, which also affects ZEB2, has beenpreviously 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 mutationat c.190dup (p.S64Kfs*6). To our knowledge, this is the second report of a Korean patient with Mowat-Wilson syndrome thathas been confirmed genetically. KCI Citation Count: 1
Bibliography:G704-SER000002217.2014.11.2.010
ISSN:1226-1769
2383-8442
DOI:10.5734/JGM.2014.11.2.79