Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

doi:10.1016/j.ajhg.2026.07.007

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Article

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

American journal of human genetics - 3 Sept 2026

Boon Marina, Mulligan Meghan R, Verseput Jolijn J A, Šakić Barbara, Schreurs Pleuni, Coll-Tané Mireia, Accogli Andrea, Alderman Emily, Athey Taryn, Boerkoel Cornelius, Boni Antonella, Caumes Roseline, Gerkes Erica, Haase Sabine, Jaillard Sylvie, Jeffries Lauren, Kannu Peter, Konstantino Monica, Lévy Jonathan, Lokchine Anna, Massink Maarten, Samra Nadra Nasser, Oegema Renske, Scala Marcello, Schieving Jolanda, Schwartzmann Sarina, Sczakiel Henrike Lisa, Smol Thomas, Striano Pasquale, Verloes Alain, Begtrup Amber, Pfundt Rolph, Franke Barbara, Klein Marieke, Schenck Annette, Bicknell Louise S, de Vries Bert B A

Abstract excerpt

RNA-binding proteins (RBPs) regulate gene expression, and a number of RBPs have been implicated in brain function and behavior. Here, we report 16 individuals with a neurodevelopmental disorder and de novo heterozygous variants in ELAVL2, encoding an RBP not previously linked to Mendelian disease. Thirteen individuals were identified through GeneMatcher. Their ELAVL2 variants include two structural, five...

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Topics

Humans
Haploinsufficiency

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Female

Male

Animals

Child

Child, Preschool

Neurodevelopmental Disorders

Adolescent

Cognition

ELAV Proteins

Phenotype

Intellectual Disability

Source

Open in PubMed

Identifiers

PMID: 42556336
DOI: 10.1016/j.ajhg.2026.07.007

Genes

ELAVL2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 22 Oct 2026.

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