The Turkish Journal of Pediatrics 2012 , Vol 54 , Num 5
A Case of Mowat-Wilson Syndrome Caused by a Truncating Mutation within Exon 8 of the ZEB2 Gene
1Department of Pediatrics, Gülhane Military Medical Academy (GATA), Haydarpaşa Training Hospital, İstanbul, and 2Institute of Medical Genetics, A. Gemelli Catholic University of Rome, Rome, Italy, and 3Pediatric Genetics Unit, Department of Pediatrics, Başkent University Faculty of Medicine, Ankara, Turkey. E-mail: Mowat-Wilson syndrome (MWS) is characterized by severe mental retardation with seizures, specific facial dysmorphism, Hirschsprung disease, anomalies of the corpus callosum, and genitourinary and cardiac malformations. The cause of MWS is a de novo mutation in the ZEB2 gene. This report describes a Turkish boy who was clinically diagnosed with MWS and had his diagnosis confirmed by molecular analysis of the ZEB2 gene. The investigation identified a heterozygous complex rearrangement in exon 8 of ZEB2, specifically a 48-nucleotide deletion and a 44-nucleotide insertion that caused a frameshift. MWS is a relatively newly identified disorder, and even MWS patients without Hirschsprung disease can be diagnosed easily based on clinical findings alone. Keywords : Mowat-Wilson syndrome, facial dysmorphism, Hirschsprung disease, mental retardation, ZEB2 gene.
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