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

A rare missense variant in the ATP2C2 gene is associated with language impairment and related measures.

Human molecular genetics - 9 Jun 2021

Martinelli Angela, Rice Mabel L, Talcott Joel B, Diaz Rebeca, Smith Shelley, Raza Muhammad Hashim, Snowling Margaret J, Hulme Charles, Stein John, Hayiou-Thomas Marianna E, Hawi Ziarih, Kent Lindsey, Pitt Samantha J, Newbury Dianne F, Paracchini Silvia

Abstract excerpt

At least 5% of children present unexpected difficulties in expressing and understanding spoken language. This condition is highly heritable and often co-occurs with other neurodevelopmental disorders such as dyslexia and ADHD. Through an exome sequencing analysis, we identified a rare missense variant (chr16:84405221, GRCh38.p12) in the ATP2C2 gene. ATP2C2 was implicated in language disorders by linkage and...

Read the complete abstract on PubMed

Topics

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

Share to Adenosine Triphosphatases
Share to Calcium-Transporting ATPases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dyslexia

Share to Exome Sequencing

Share to Genetic Association Studies

Share to Mutation, Missense

Share to Pedigree

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 33864365
DOI: 10.1093/hmg/ddab111
PMCID: PMC8188402

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

A rare missense variant in the ATP2C2 gene is associated with language impairment and related measures.PMID 33864365Read ↗

A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of<i>ATP8A2</i>-related disorders caused by missense changesSemantic proximity Read ↗

ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.Semantic proximity Read ↗

A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes.Semantic proximity Read ↗

The Role of ATP9A (c.1091G>C; p.(Arg364Thr)) Variant in Cognitive Impairment: Diagnostic Insight from Whole Exome SequencingSemantic proximity Read ↗

Genetic advances in the study of speech and language disorders.Semantic proximity Read ↗

Identification of a homozygous missense mutation in LRP2 and a hemizygous missense mutation in TSPYL2 in a family with mild intellectual disabilitySemantic proximity Read ↗

Congenital ataxia due to novel variant in ATP8A2.Semantic proximity Read ↗

Converging evidence for an association of ATP2B2 allelic variants with autism in male subjects.Semantic proximity Read ↗

Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar Pathologies.Semantic proximity Read ↗

The evidence for association of ATP2B2 polymorphisms with autism in Chinese Han population.Semantic proximity Read ↗

Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disordersSemantic proximity Read ↗

Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.Semantic proximity Read ↗

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