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GENATLAS PHENOTYPE
last update : 11-02-2009
Symbol MOWS
Location 2q22.3
Name Mowat-Wilson syndrome
Other name(s)
  • interstitial deletion 2q22
  • Hirschsprung disease (HSCR) with mental retardation, microcephaly and distinct facial features
    • Corresponding gene ZEB2
    Other symbol(s) MRHH, MWS, HSCR6, DEL2Q22
    Main clinical features
  • high forehead,marked hypertelorism, prominent nasal tip, prominent philtral pillars, lips full medially and narrow laterally, uplifted earlobes, open-mouthed smiling expression, narrow triangular chin, prognathism in older patients, frequent hypospadias in male
  • severe mental retardation, microcephaly, epilepsy (73%), Hirschsprung disease, mainly short segment disease, with excess of males (75% vs28%), congenital heart disease, abnormal brain findings, including agenesis of corpus callosum
  • may be recognized by the facial phenotype in the absence of HSCR
    • Genetic determination autosomal dominant
    chromosomal
    Prevalence more than 30 cases reported
    Function/system disorder digestive tract/gastrointestinal
    mental retardation
    multisystem/generalized
    Type disease
    Gene product
    Name Smad-interacting protein 1 (SIP1)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    frameshift   haploinsufficiency  
    nonsense   haploinsufficiency  
      deletion haploinsufficiency 0.2-10.42 Mb deletions at 2q22-q24.1 including ZFHX1B on the paternal chromosome
    missense     Q1119R, with atypical phenotype
    Remark(s)
    Genotype/Phenotype correlations
  • clinical features of patients with deletions up to about 5 Mb closely overlap those of cases with nonsense and frameshift mutations; larger deletions are associated with significantly delayed psychomotor development
  • missense mutations associated to atypical form with cleft lip and palate and brachytelephalangy