The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.

doi:10.1111/cge.14587

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

Community

Back to search

Article

The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.

Clinical genetics - 1 Nov 2024

Furia Francesca, Levy Amanda M, Theunis Miel, Bamshad Michael J, Bartos Meghan N, Bijlsma Emilia K, Brancati Francesco, Cejudo Lucile, Chong Jessica X, De Luca Chiara, Dean Sarah Joy, Egense Alena, Goel Himanshu, Guenzel Adam J, Hüffmeier Ulrike, Legius Eric, Mancini Grazia M S, Marcos-Alcalde Iñigo, Niclass Tanguy, Planes Marc, Redon Sylvia, Ros-Pardo David, Rouault Karen, Schot Rachel, Schuhmann Sarah, Shen Joseph J, Tao Alice M, Thiffault Isabelle, Van Esch Hilde, Wentzensen Ingrid M, Barakat Tahsin Stefan, Møller Rikke S, Gomez-Puertas Paulino, Chung Wendy K, Gardella Elena, Tümer Zeynep

Abstract excerpt

ANK3 encodes ankyrin-G, a protein involved in neuronal development and signaling. Alternative splicing gives rise to three ankyrin-G isoforms comprising different domains with distinct expression patterns. Mono- or biallelic ANK3 variants are associated with non-specific syndromic intellectual disability in 14 individuals (seven with monoallelic and seven with biallelic variants). In this study, we describe the...

Read the complete abstract on PubMed

Topics

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

Share to Ankyrins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Attention Deficit Disorder with Hyperactivity

Share to Autism Spectrum Disorder

Share to Epilepsy

Share to Genetic Association Studies

Share to Intellectual Disability

Share to Language Development Disorders

Share to Neurodevelopmental Disorders

Source

Open in PubMed Open full text

Identifiers

PMID: 38988293
DOI: 10.1111/cge.14587
PMCID: PMC11444875

Genes

ANK3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.PMID 38988293Read ↗

First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features.Semantic proximity Read ↗

Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar Ataxia.Semantic proximity Read ↗

Roles and mechanisms of ankyrin-G in neuropsychiatric disordersSemantic proximity Read ↗

SHANK3 variant as a cause of nonsyndromal autism in an 11-year-old boy and a review of published literature.Semantic proximity Read ↗

Ankyrin 3: genetic association with bipolar disorder and relevance to disease pathophysiologySemantic proximity Read ↗

Behavioural characterization of AnkyrinG deficient mice, a model for ANK3 related disorders.Semantic proximity Read ↗

AnkyrinsSemantic proximity Read ↗

Mechanisms underlying the role of ankyrin-B in cardiac and neurological health and diseaseSemantic proximity Read ↗

Single Nucleotide Polymorphisms in ANK3 and Psychiatric Risk: A Meta-Analysis, Systematic Review, and Quantitative Trait Locus InsightsSemantic proximity Read ↗

A neuron type-specific microexon in <i>Ank3</i> /ankyrin-G modulates calcium activity and neuronal excitabilitySemantic proximity Read ↗

SHANK proteins: roles at the synapse and in autism spectrum disorder.Semantic proximity Read ↗

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