title: Mowat--Wilson syndrome: the clinical report with the novel mutation in ZFHX1B (exon 8: c.2372del C; p.T791fsX816).
abstract: BACKGROUND
  Mowat-Wilson syndrome is a congenital syndrome caused by a defect of the transcriptional repressor ZFHX1B (SIP1) gene on the chromosome 2q22-q23. The genotype-phenotype analysis confirmed that ZFHX1B deletions and mutations result in a recognizable facial dysmorphism with a multiple congenital anomaly and mental retardation.
  
  
  METHODS
  This report is about one new patient from Croatia with the typical phenotype. Molecular genetic studies showed the novel mutation in ZFHX1B (exon 8: c.2372del C; p.T791fsX816). This mutation has not been reported before. The literature is reviewed.
  
  
  CONCLUSIONS
  Mowat-Wilson syndrome is a newly described congenital syndrome and should be considered in any individual with characteristic facial features and mental retardation in associations with congenital malformations.
authors.affiliation: Department of Pediatric Neurology, Clinical Medical Centre, Rijeka, Istarska 43, Rijeka, Croatia.
authors.forename: Antun
authors.initials: A
authors.lastname: Sasso
authors.forename: Ela
authors.initials: E
authors.lastname: Paucić-Kirincić
authors.forename: Silvija
authors.initials: S
authors.lastname: Kamber-Makek
authors.forename: Nada
authors.initials: N
authors.lastname: Sindicić
authors.forename: S
authors.initials: S
authors.lastname: Brajnović-Zaputović
authors.forename: Bojana
authors.initials: B
authors.lastname: Brajenović-Milić
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D002869:Chromosome Aberrations; D005091:Exons; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008297:Male; D009154:Mutation; D012097:Repressor Proteins / Q000235:genetics*; 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