Table 3 Neurexin 1 and autistic spectrum disorders
ReferencePatients with ASD, nDe novo mutations, n (%)Mutations/deletionsClinical phenotype
Feng et al43264 (219M+45F)0/192 (0)S14L*, T40S,* 26insGG†Autism with seizures and facial dysmorphism
The Autism Genome Project Consortium451962/196‡ (0.5)300 kb del at 2p16Autism with mild to severe spoken language deficits
Kim et al44570/57 (0)ins(16;2)(q22.1;p16.1p16.3).* t(1;2)(q31.3;p16.3).§ L18Q,† L748I*
Yan et al461160/116 (0)R8P, L13F, G28A,* c1024 +1 G→A,† T665I,† E715K†
Total6331/633 (0.15)
  • ASD, autistic spectrum disorders.

  • *Mutations found also in other non-affected family members or in controls.

  • †No clinical and pedigree information available; not specified if occurring de novo.

  • ‡Counted as “1”, because affected members were consanguineous relatives from the same pedigree.

  • §Rearrangement localised ∼750 kb 5′ to the NRXN1 locus.