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GENATLAS PHENOTYPE
last update : 12-05-2009
Symbol SPCH1
Location 7q31.1
Name severe speech-language disorder 1
Other name(s) developmental verbal dyspraxia, chilhood apraxia of speech
Corresponding gene FOXP2
Other symbol(s) DVD, CAS
Main clinical features
  • verbal dyspraxia or childhood apraxia of speech i.e. problems sequencing the precise movements of tongue, lips, jaw and palate that contribute to intelligible speech
  • difficulties with learning and production of non-speech sequences involving the orofacial musculature (orofacial dyspraxia)
  • broad profile of linguistic defects affecting oral and written language
    • Genetic determination autosomal dominant
    chromosomal
    Related entries DEL7Q31
    Function/system disorder neurology
    Type other
    Gene product
    Name forkhead box P2
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   haploinsufficiency truncating mutations, lacking the leu-zip, Zn2+ finger, and forkhead domains demonstrated an aggregated cytoplasmic localization
      deletion haploinsufficiency including FOXP2
      translocation haploinsufficiency translocations interrupting FOXP2
    Remark(s)