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Article

MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling.

Proceedings of the National Academy of Sciences of the United States of America - 27 Nov 2012

Zhou Haiying, Spaeth Jason M, Kim Nam Hee, Xu Xuan, Friez Michael J, Schwartz Charles E, Boyer Thomas G

Abstract excerpt

Recurrent missense mutations in the RNA polymerase II Mediator subunit MED12 are associated with X-linked intellectual disability (XLID) and multiple congenital anomalies, including craniofacial, musculoskeletal, and behavioral defects in humans with FG (or Opitz-Kaveggia) and Lujan syndromes. However, the molecular mechanism(s) underlying these phenotypes is poorly understood. Here we report that MED12 mutations...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23091001
DOI: 10.1073/pnas.1121120109
PMCID: PMC3511715

Genes

GLI3
MED12
SHH
CDK8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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An intellectual disability-related MED23 mutation dysregulates gene expression by altering chromatin conformation and enhancer activities.Semantic proximity Read ↗

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