Table 1 Neuroligin 3/4 genes and autistic spectrum disorders
ReferencePatients with ASD, n (sex)Hemizygous mutations, n (%)Mutations/deletionsClinical phenotype
Jamain et al26158 (140M,18F)2/158 (1.26)NLGN4: D396X,* NLGN3: R451C*Autism or Asperger syndrome
Blasi et al37124 (all M)
Vincent et al34196 (149M,47F)
Laumonnier et al311 family with 13 affected males13†NLGN4: D429X*Mental retardation, autism, PDD-NOS
Ylisaukko-oja et al3630 (26M, 4F)
Yan et al33148 (122M, 26F)3/148 (2)NLGN4: G99S,‡ K378R,* 403M,* R704C*Mild to severe autism, PDD-NOS
Gauthier et al3596 (83M,13F)
Wermter et al38107 (102M, 5F)
Lawson-Yuen et al321 family (1 affected male)1Del NLGN4, exons 4,5,6§Autism with motor tics
Total8617/861 (0.8)
  • ASD, autistic spectrum disorders; PDD-NOS, pervasive developmental disorder not otherwise specified.

  • *Mutations also found in heterozygous asymptomatic mothers and/or other unaffected family members.

  • †Counted as a single mutation, because these were consanguineous individuals from the same large pedigree.

  • ‡Mutation found to be heterozygous in a female patient and in her mother (affected by a learning disability).

  • §Mutation found to be heterozygous in the patient’s mother (learning disorder, anxiety and depression) and his brother (Tourette syndrome).