Disruption of a brain transcription factor, NPAS3, is associated with schizophrenia and learning disability

Ben S. Pickard, M.P. Malloy, D.J. Porteous, D.H.R. Blackwood, W.J. Muir

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65 Citations (Scopus)


A mother and daughter diagnosed with schizophrenia and schizophrenia co-morbid with mild learning disability, respectively, possess a balanced reciprocal translocation t(9,14)(q34.2;q13). Fluorescence in situ hybridization (FISH) with YAC, BAC, and cosmid probes indicate that the chromosome 14q13 breakpoint disrupts a large gene, NPAS3, encoding a CNS expressed transcription factor of the basic helix-loop-helix PAS (bHLH-PAS) gene family. By analogy with other members of the bHLH-PAS family, the putative truncated protein generated from the disrupted gene locus may have a dominant negative effect. The 14q13 region was previously identified by a linkage study of an inherited neurodegenerative condition, idiopathic basal ganglia calcification (IBGC or Fahr syndrome, OMIM:213600/606656), which is often co-morbid with psychosis. Sequencing of the gene in a third patient diagnosed with IBGC, schizophrenia, and mild learning disability did not reveal functional mutations.
Original languageEnglish
Pages (from-to)26-32
Number of pages7
JournalAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Issue number1
Early online date27 May 2005
Publication statusPublished - 5 Jul 2005


  • abnormalities
  • chromosome aberration
  • Fahr syndrome
  • fluorescence in situ hybridization (FISH)


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