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

Compound heterozygous structural variants resulting in CNTNAP2 biallelic loss-of-function: rare mechanisms unveiled by genome sequencing.

Human genomics - 5 Apr 2026

Fauqueux Jade, Caumes Roseline, Colson Cindy, Trauffler Adeline, Cleuziou Pierre, Thuillier Caroline, Planté-Bordeneuve Pauline, Tessarech Marine, Ghoumid Jamal, Smol Thomas

Abstract excerpt

The CNTNAP2 gene encodes CASPR2, a transmembrane protein essential for neuronal development and synaptic function. Biallelic pathogenic variants cause Pitt-Hopkins-like syndrome, characterized by intellectual disability, epilepsy, and autistic features. We report two patients with a Pitt-Hopkins-like phenotype carrying compound heterozygous structural variants: an intragenic deletion in trans with a paracentric...

Read the complete abstract on PubMed

Topics

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

Share to Epilepsy
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Intellectual Disability

Share to Loss of Function Mutation

Share to Membrane Proteins

Share to Nerve Tissue Proteins

Share to Whole Genome Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 41937184
DOI: 10.1186/s40246-026-00952-9
PMCID: PMC13196119

Genes

CNTNAP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Compound heterozygous structural variants resulting in CNTNAP2 biallelic loss-of-function: rare mechanisms unveiled by genome sequencing.PMID 41937184Read ↗

Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum.Semantic proximity Read ↗

Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorderSemantic proximity Read ↗

Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders.Semantic proximity Read ↗

No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins.Semantic proximity Read ↗

Characterisation of CASPR2 deficiency disorder--a syndrome involving autism, epilepsy and language impairment.Semantic proximity Read ↗

Characterisation of CASPR2 deficiency disorder - a syndrome involving autism, epilepsy and language impairmentSemantic proximity Read ↗

Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder.Semantic proximity Read ↗

Germline mosaicism of a missense variant in <i>KCNC2</i> in a multiplex family with autism and epilepsySemantic proximity Read ↗

Novel de novo 2q14.3 deletion disrupting CNTNAP5 in a girl with intellectual impairment, thin corpus callosum, and microcephaly.Semantic proximity Read ↗

A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism.Semantic proximity Read ↗

Long-read genome sequencing resolves a complex structural variant involving TBCD and exposes a gap in existing variant classification frameworksSemantic proximity Read ↗

Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.Semantic proximity Read ↗

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