title: Mowat-Wilson syndrome: an underdiagnosed syndrome?
abstract: Mowat-Wilson syndrome (MWS) is an autosomal dominant developmental disorder with mental retardation and variable multiple congenital abnormalities due to mutations of the ZEB2 (ZFHX1B) gene at 2q22. MWS was first described in 1998 and the causative gene was delineated in 2001. Since then, 115 different mutations of ZEB2 have been published in association with this syndrome in 161 individuals. However, recent reports suggest that due to the variability of the congenital abnormalities, this syndrome may still be underdiagnosed. We report two unrelated patients with MWS where the clinical diagnosis was established only after finding of disruption of the ZEB2 gene by a balanced translocation breakpoint and an interstitial microdeletion, respectively.
authors.affiliation: Wilhelm Johannsen Centre for Functional Genome Research, Institute of Molecular and Cellular Medicine, The Panum Institute, University of Copenhagen, Denmark. engenheiro@imbg.ku.dk
authors.forename: E
authors.initials: E
authors.lastname: Engenheiro
authors.forename: R S
authors.initials: RS
authors.lastname: Møller
authors.forename: M
authors.initials: M
authors.lastname: Pinto
authors.forename: G
authors.initials: G
authors.lastname: Soares
authors.forename: M
authors.initials: M
authors.lastname: Nikanorova
authors.forename: I M
authors.initials: IM
authors.lastname: Carreira
authors.forename: R
authors.initials: R
authors.lastname: Ullmann
authors.forename: N
authors.initials: N
authors.lastname: Tommerup
authors.forename: Z
authors.initials: Z
authors.lastname: Tümer
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D019457:Chromosome Breakage; D020732:Cytogenetic Analysis; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D013577:Syndrome; D000074165:Zinc Finger E-box Binding Homeobox 2
chemical_list: D018398:Homeodomain Proteins; D012097:Repressor Proteins; C492363:ZEB2 protein, human; D000074165:Zinc Finger E-box Binding Homeobox 2