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

Copy number and sequence variants implicate APBA2 as an autism candidate gene.

Autism research : official journal of the International Society for Autism Research - 1 Dec 2009

Babatz Timothy D, Kumar Ravinesh A, Sudi Jyotsna, Dobyns William B, Christian Susan L

Abstract excerpt

We recently reported an autistic proband and affected sibling with maternally inherited microduplications within the 15q13.1 and 15q13.3 regions that contain a total of 4 genes. The amyloid precursor protein-binding protein A2 (APBA2) gene is located within the 15q13.1 duplication and encodes a neuronal adaptor protein essential to synaptic transmission that interacts directly with NRXN1 at the presynaptic...

Read the complete abstract on PubMed

Topics

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

Share to Cadherins
Share to Calcium-Binding Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cell Adhesion Molecules, Neuronal

Share to Child Development Disorders, Pervasive

Share to Chromosomes, Human, Pair 15

Share to Gene Duplication

Share to Neural Cell Adhesion Molecules

Share to Synaptic Transmission

Source

Identifiers

PMID: 20029827
DOI: 10.1002/aur.107

Genes

APBA2
NRXN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Copy number and sequence variants implicate APBA2 as an autism candidate gene.PMID 20029827Read ↗

Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.Semantic proximity Read ↗

Genomic, Clinical, and Behavioral Characterization of 15q11.2 BP1-BP2 Deletion (Burnside-Butler) Syndrome in Five Families.Semantic proximity Read ↗

Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT.Semantic proximity Read ↗

Dense linkage disequilibrium mapping in the 15q11-q13 maternal expression domain yields evidence for association in autism.Semantic proximity Read ↗

Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia.Semantic proximity Read ↗

Mutation screening and transmission disequilibrium study of ATP10C in autism.Semantic proximity Read ↗

Copy number variation findings among 50 children and adolescents with autism spectrum disorder.Semantic proximity Read ↗

Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism.Semantic proximity Read ↗

Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: a positive replication for UBE3A.Semantic proximity Read ↗

Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2.Semantic proximity Read ↗

Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes.Semantic proximity Read ↗

Association study and mutation sequencing of genes on chromosome 15q11-q13 identified GABRG3 as a susceptibility gene for autism in Chinese Han population.Semantic proximity Read ↗

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