title: A case of Mowat-Wilson syndrome caused by a truncating mutation within exon 8 of the ZEB2 gene.
abstract: 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.
authors: Department of Pediatrics, Gülhane Military Medical Academy, Haydarpaşa Training Hospital, Istanbul.
authors: Cihan
authors: C
authors: Meral
authors: Bariy
authors: B
authors: Malbora
authors: Fatih
authors: F
authors: Celikel
authors: Gökhan
authors: G
authors: Aydemir
authors: Selami
authors: S
authors: Süleymanoğlu
authors: Marcella
authors: M
authors: Zollino
authors: Murat
authors: M
authors: Derbent
mesh_terms: D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D019066:Facies; D016368:Frameshift Mutation; D006627:Hirschsprung Disease / Q000235:genetics* / Q000378:metabolism; D018398:Homeodomain Proteins / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008831:Microcephaly / Q000235:genetics* / Q000378:metabolism; D010641:Phenotype; D012097:Repressor Proteins / Q000235:genetics* / Q000378:metabolism; D000074165:Zinc Finger E-box Binding Homeobox 2; D016335:Zinc Fingers
chemical_list: D018398:Homeodomain Proteins; D012097:Repressor Proteins; C492363:ZEB2 protein, human; D000074165:Zinc Finger E-box Binding Homeobox 2; D004247:DNA