Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.

doi:10.1002/humu.22816

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

Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.

Human mutation - 1 Sept 2015

Addis Laura, Ahn Joo Wook, Dobson Richard, Dixit Abhishek, Ogilvie Caroline M, Pinto Dalila, Vaags Andrea K, Coon Hilary, Chaste Pauline, Wilson Scott, Parr Jeremy R, Andrieux Joris, Lenne Bruno, Tumer Zeynep, Leuzzi Vincenzo, Aubell Kristina, Koillinen Hannele, Curran Sarah, Marshall Christian R, Scherer Stephen W, Strug Lisa J, Collier David A, Pal Deb K

Abstract excerpt

Copy-number variations (CNVs) are important in the aetiology of neurodevelopmental disorders and show broad phenotypic manifestations. We compared the presence of small CNVs disrupting the ELP4-PAX6 locus in 4,092 UK individuals with a range of neurodevelopmental conditions, clinically referred for array comparative genomic hybridization, with WTCCC controls (n = 4,783). The phenotypic analysis was then extended...

Read the complete abstract on PubMed

Topics

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

Share to Autism Spectrum Disorder

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

Share to Databases, Genetic

Share to Datasets as Topic

Share to DNA Copy Number Variations

Share to Inheritance Patterns

Share to Intellectual Disability

Share to Language Disorders

Source

Open in PubMed

Identifiers

PMID: 26010655
DOI: 10.1002/humu.22816

Genes

ELP4
PAX6

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

Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.PMID 26010655Read ↗

Global characterization of copy number variants in epilepsy patients from whole genome sequencingSemantic proximity Read ↗

Structural variants in the Epb41l4a locus may cause disruption of TADs, misregulation of the Nrep gene, and neurodevelopmental outcomesSemantic proximity Read ↗

Genome wide analysis of novel copy number variations duplications/deletions of different epileptic patients in Saudi ArabiaSemantic proximity Read ↗

Whole exome sequencing identifies a novel 5 Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures.Semantic proximity Read ↗

Clinical Significance of Rare Copy Number Variations in EpilepsySemantic proximity Read ↗

Association and mutation analyses of 16p11.2 autism candidate genes.Semantic proximity Read ↗

Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies.Semantic proximity Read ↗

Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.Semantic proximity Read ↗

Global increases in both common and rare copy number load associated with autismSemantic proximity Read ↗

Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.Semantic proximity Read ↗

Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders.Semantic proximity Read ↗

Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment.Semantic proximity Read ↗

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