Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.

Nature genetics - 1 May 2003

Jamain Stéphane, Quach Hélène, Betancur Catalina, Råstam Maria, Colineaux Catherine, Gillberg I Carina, Soderstrom Henrik, Giros Bruno, Leboyer Marion, Gillberg Christopher, Bourgeron Thomas

Abstract excerpt

Many studies have supported a genetic etiology for autism. Here we report mutations in two X-linked genes encoding neuroligins NLGN3 and NLGN4 in siblings with autism-spectrum disorders. These mutations affect cell-adhesion molecules localized at the synapse and suggest that a defect of synaptogenesis may predispose to autism.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Autistic Disorder
Share to Carrier Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cell Adhesion Molecules, Neuronal

Share to Chromosomes, Human, X

Share to DNA, Complementary

Share to Genetic Linkage

Share to Nerve Tissue Proteins

Share to Sequence Homology, Amino Acid

Source

Open in PubMed Open full text

Identifiers

PMID: 12669065
DOI: 10.1038/ng1136
PMCID: PMC1925054

Genes

NLGN3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.PMID 12669065Read ↗

A Cluster of Autism-Associated Variants on X-Linked NLGN4X Functionally Resemble NLGN4Y.Semantic proximity Read ↗

Unraveling the Role of Neuroligin3 in Autism Spectrum Disorders: Pathophysiological Insights and Targeted Therapies.Semantic proximity Read ↗

Variations analysis of NLGN3 and NLGN4X gene in Chinese autism patients.Semantic proximity Read ↗

Analysis of four neuroligin genes as candidates for autism.Semantic proximity Read ↗

Disorder-associated mutations lead to functional inactivation of neuroligins.Semantic proximity Read ↗

Functional significance of rare neuroligin 1 variants found in autism.Semantic proximity Read ↗

Distortion of the normal function of synaptic cell adhesion molecules by genetic variants as a risk for autism spectrum disorders.Semantic proximity Read ↗

Absence of coding mutations in the X-linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collection.Semantic proximity Read ↗

Analyses of the Autism-associated Neuroligin-3 R451C Mutation in Human Neurons Reveals a Gain-of-Function Synaptic MechanismSemantic proximity Read ↗

Analysis of the genes encoding neuroligins NLGN3 and NLGN4 in Bulgarian patients with autism.Semantic proximity Read ↗

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.Semantic proximity Read ↗

Analyses of the autism-associated neuroligin-3 R451C mutation in human neurons reveal a gain-of-function synaptic mechanism.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.