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Article

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval.

Clinical genetics - 1 Oct 2026

Condell Angelo, Zhang Elaine, Sikora Tim, Massey Sean, Van Bergen Nicole J, Wang Min, Simons Cas, Bell Katrina M, Hock Daniella H, Stroud David A, Francis David, Gold Wendy A, Delatycki Martin B, Christodoulou John, Kaur Simranpreet

Abstract excerpt

The 9q34.11 chromosomal region contains multiple neurodevelopmental genes involved in synaptic transmission, axonal structure and neuronal maturation. Pathogenic microdeletions, duplications and single nucleotide variants in numerous genes were previously linked with neurodevelopmental disorders (NDDs). Amongst them, SET has recently been implicated in a rare NDD with speech delay and facial dysmorphism. This...

Read the complete abstract on PubMed

Topics

Humans
Female
Chromosome Deletion
Chromosomes, Human, Pair 9
Neurodevelopmental Disorders

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

Phenotype

Haploinsufficiency

Carrier Proteins

Transcription Factors

Child

Nuclear Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 42432431
DOI: 10.1111/cge.70213
PMCID: PMC13533875

Genes

SET
SPTAN1
STXBP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval.PMID 42432431Read ↗

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