title: ZEB2 gene mutation and duplication of 22q11.23 in Mowat-Wilson syndrome.
abstract: Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, agenesis of the corpus callosum, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies. We report a 2-year-10-month-old white female with this syndrome caused by mutations in the ZEB2 gene, and in addition a duplication of the 22q11.23, a previously undocumented occurrence.
authors.affiliation: Istanbul School of Medicine, Istanbul University, Istanbul, Turkey.
authors.forename: Ersida
authors.initials: E
authors.lastname: Buraniqi
authors.affiliation: Center for Pediatric Neurology, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA moodlem@ccf.org.
authors.forename: Manikum
authors.initials: M
authors.lastname: Moodley
mesh_terms: D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D019066:Facies; D005260:Female; D006627:Hirschsprung Disease / Q000150:complications / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008831:Microcephaly / Q000150:complications / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D014314:Trisomy / Q000235:genetics* / Q000473:pathology; 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
keywords:    ZEB2 gene; Mowat-Wilson syndrome; duplication of 22q11.23