A case of Mowat-Wilson syndrome with developmental delays and Hirschsprung's disease.

Author: Darae LEE ¹ ; Ja Hye KIM ; Ja Hyang CHO ; Moon Yun OH ; Beom Hee LEE ; Gu Hwan KIM ; Jin Ho CHOI ; Han Wook YOO
Author Information

1. Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea. hwyoo@amc.seoul.kr
Publication Type:Case Report
Keywords: Mowat-Wilson syndrome; Hirschsprung disease; ZEB2
MeSH: Hirschsprung Disease*; Humans; Intellectual Disability; Korea; Zinc Fingers
From:Journal of Genetic Medicine 2014;11(2):79-82
CountryRepublic of Korea
Language:English
Abstract: 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.