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

An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.

Journal of cellular and molecular medicine - 1 Mar 2021

Cameli Cinzia, Viggiano Marta, Rochat Magali J, Maresca Alessandra, Caporali Leonardo, Fiorini Claudio, Palombo Flavia, Magini Pamela, Duardo Renée C, Ceroni Fabiola, Scaduto Maria C, Posar Annio, Seri Marco, Carelli Valerio, Visconti Paola, Bacchelli Elena, Maestrini Elena

Abstract excerpt

Autism spectrum disorder (ASD) is characterized by a complex polygenic background, but with the unique feature of a subset of cases (~15%-30%) presenting a rare large-effect variant. However, clinical interpretation in these cases is often complicated by incomplete penetrance, variable expressivity and different neurodevelopmental trajectories. NRXN1 intragenic deletions represent the prototype of such...

Read the complete abstract on PubMed

Topics

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

Share to Autism Spectrum Disorder
Share to Calcium-Binding Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

Share to Exome Sequencing

Share to Gene Regulatory Networks

Share to Genome, Mitochondrial

Share to Neural Cell Adhesion Molecules

Share to Penetrance

Source

Open in PubMed Open full text

Identifiers

PMID: 33476483
DOI: 10.1111/jcmm.16161
PMCID: PMC7933976

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.PMID 33476483Read ↗

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

Clinical Phenotypes Associated with NRXN1 Deletions in Five Children with Autism Spectrum Disorder in Oman.Semantic proximity Read ↗

Recent Advances in Understanding the Genetic Architecture of Autism.Semantic proximity Read ↗

Autism spectrum disorder trios from consanguineous populations are enriched for rare homozygous variants, identifying 32 new candidate genes.Semantic proximity Read ↗

A critical review of the impact of candidate copy number variants on autism spectrum disorder.Semantic proximity Read ↗

An integrative analysis of non-coding regulatory DNA variations associated with autism spectrum disorder.Semantic proximity Read ↗

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.Semantic proximity Read ↗

The Importance of Large-Scale Genomic Studies to Unravel Genetic Risk Factors for Autism.Semantic proximity Read ↗

Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum DisorderSemantic proximity Read ↗

Genomic architecture of autism from comprehensive whole-genome sequence annotation.Semantic proximity Read ↗

Complex genomic variants contribute toward the genetic architecture of autism spectrum disorder.Semantic proximity Read ↗

Evaluating the impact of compound heterozygosity involving microdeletions and sequence-level variants: findings in autismSemantic proximity Read ↗

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