De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.

doi:10.1038/s41436-020-01040-6

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

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2021

Polla D L, Bhoj E J, Verheij J B G M, Wassink-Ruiter J S Klein, Reis A, Deshpande C, Gregor A, Hill-Karfe K, Silfhout A T Vulto-van, Pfundt R, Bongers E M H F, Hakonarson H, Berland S, Gradek G, Banka S, Chandler K, Gompertz L, Huffels S C, Stumpel C T R M, Wennekes R, Stegmann A P A, Reardon W, Leenders E K S M, de Vries B B A, Li D, Zackai E, Ragge N, Lynch S A, Cuddapah S, van Bokhoven H, Zweier C, de Brouwer A P M

Abstract excerpt

PURPOSE: MED12 is a subunit of the Mediator multiprotein complex with a central role in RNA polymerase II transcription and regulation of cell growth, development, and differentiation. This might underlie the variable phenotypes in males carrying missense variants in MED12, including X-linked recessive Ohdo, Lujan, and FG syndromes. METHODS: By international matchmaking we assembled variant and clinical data on...

Read the complete abstract on PubMed

Topics

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

Share to Genes, X-Linked

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intellectual Disability

Share to Mediator Complex

Share to Mutation, Missense

Share to Neurodevelopmental Disorders

Share to Phenotype

Share to Syndrome

Share to X-Linked Intellectual Disability

Source

Open in PubMed

Identifiers

PMID: 33244165
DOI: 10.1038/s41436-020-01040-6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.PMID 33244165Read ↗

The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12-related disorders.Semantic proximity Read ↗

Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.Semantic proximity Read ↗

De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?Semantic proximity Read ↗

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.Semantic proximity Read ↗

MED12 Mutation in Two Families with X-Linked Ohdo Syndrome.Semantic proximity Read ↗

MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability.Semantic proximity Read ↗

MED12 variants associated with X-linked recessive partial epilepsy without intellectual disability.Semantic proximity Read ↗

MED12 mutations in human diseases.Semantic proximity Read ↗

35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical Evaluations.Semantic proximity Read ↗

Expanding the Variant Spectrum of <em>MED13L</em>-Associated Neurodevelopmental Disorder: Insights from the 100k Genomes ProjectSemantic proximity Read ↗

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