Reference | Patients with ASD, n (sex) | Hemizygous mutations, n (%) | Mutations/deletions | Clinical phenotype |
Jamain et al26 | 158 (140M,18F) | 2/158 (1.26) | NLGN4: D396X,* NLGN3: R451C* | Autism or Asperger syndrome |
Blasi et al37 | 124 (all M) | — | — | — |
Vincent et al34 | 196 (149M,47F) | — | — | — |
Laumonnier et al31 | 1 family with 13 affected males | 13† | NLGN4: D429X* | Mental retardation, autism, PDD-NOS |
Ylisaukko-oja et al36 | 30 (26M, 4F) | — | — | — |
Yan et al33 | 148 (122M, 26F) | 3/148 (2) | NLGN4: G99S,‡ K378R,* 403M,* R704C* | Mild to severe autism, PDD-NOS |
Gauthier et al35 | 96 (83M,13F) | — | — | — |
Wermter et al38 | 107 (102M, 5F) | — | — | — |
Lawson-Yuen et al32 | 1 family (1 affected male) | 1 | Del NLGN4, exons 4,5,6§ | Autism with motor tics |
Total | 861 | 7/861 (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).