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GENATLAS PHENOTYPE
last update : 29-03-2014
Symbol RTTL1
Location 14q12
Name Rett-like syndrome-1
Corresponding gene FOXG1
Main clinical features
  • mild postnatal growth deficiency, severe postnatal microcephaly, severe mental retardation with absent language development, deficient social reciprocity resembling autism, combined stereotypies and frank dyskinesias, epilepsy, poor sleep patterns, irritability in infancy, unexplained episodes of crying, recurrent aspiration, and gastro-oesophageal reflux
  • severe intellectual impairment, early-onset developmental delay, postnatal microcephaly and hypotonia
  • simplified gyral pattern and reduced white matter volume in the frontal lobes, corpus callosum hypogenesis, and variable mild frontal pachgyria
    • Genetic determination autosomal recessive
    chromosomal
    Related entries DEL14Q12
    Function/system disorder neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion    
    various types      
    other     chromosome rearrangements disrupting putative cis-regulatory elements
    Remark(s)
  • missense mutation within the fork-head domain of FOXG1 affects mislocalization to specific nuclear foci referred to as nuclear speckles, and affects the cyclin-dependent kinase inhibitor p21 CDKN1A expression (PMID: 21280142))
  • p.Trp308X mutation presented with a severe RTT-like neurodevelopmental disorder, whereas the p.Tyr400X allele was associated with a classical clinical RTT presentation in females (PMID: 19564653))