ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 28 papers.
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28 citing papers in PubMed, 40 citations in OpenAlex.
- Differential expression of long non-coding RNAs can effectively distinguish monozygotic twins.International journal of legal medicine · 2026Article
- Heterozygous Med13l mice recapitulate a developmental growth delay and craniofacial anomalies seen in MED13L syndrome.Developmental dynamics : an official publication of the American Association of Anatomists · 2026Article
- PASNA syndrome with overlappingJCEM case reports · 2026Article
- Med13 is involved in the radial migration and contralateral projection of cortical neurons via PlxnA4.Communications biology · 2026Article
- Evidence of maternal inheritance of Nizon-Isidor syndrome in an individual with GAMT and TNFRSF13B sequence variants.Journal of human genetics · 2026Article
- Longitudinal Peripheral Blood Transcriptomics Reveal Novel Signatures During Cardiac Allograft Rejection.Transplantation direct · 2026Article
- Case Report: A novelFrontiers in psychiatry · 2026Article
- Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid Mosaicism.American journal of medical genetics. Part A · 2026Article
- Expanding the Clinical and Molecular Spectrum ofmedRxiv : the preprint server for health sciences · 2025Article
- Genetic, Clinical and Neuroradiological Spectrum of MED-Related Disorders: An Updated Review.Genes · 2025Review
- Comprehensive Genome-Wide Analysis of Shared Genetic Factors in Gastrointestinal and Neurodegenerative Diseases.Brain and behavior · 2025Article
- Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanism.Molecular medicine (Cambridge, Mass.) · 2025Article
- Article
- A Novel Prognostic Risk-Scoring Model Based on RAS Gene-Associated Cluster in Pediatric Acute Myeloid Leukemia.Cancer medicine · 2025Article
- Unraveling the Genetic Landscape of Neurological Disorders: Insights into Pathogenesis, Techniques for Variant Identification, and Therapeutic Approaches.International journal of molecular sciences · 2024Review
- Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.Brain : a journal of neurology · 2023Article
- Aberrant cyclin C nuclear release induces mitochondrial fragmentation and dysfunction iniScience · 2022Article
- Genomic Analyses for Selective Signatures and Genes Involved in Hot Adaptation Among Indigenous Chickens From Different Tropical Climate Regions.Frontiers in genetics · 2022Article
- Transcription Pause and Escape in Neurodevelopmental Disorders.Frontiers in neuroscience · 2022Review
- Cdk8 Kinase Module: A Mediator of Life and Death Decisions in Times of Stress.Microorganisms · 2021Review
Corrections and comments
- Commented on by
- Erratum issued
Authors and funding
22 authors at 12 institutions in 2 countries.
Funding
Abstract
purposeMediator is a multiprotein complex that allows the transfer of genetic information from DNA binding proteins to the RNA polymerase II during transcription initiation. MED12L is a subunit of the kinase module, which is one of the four subcomplexes of the mediator complex. Other subunits of the kinase module have been already implicated in intellectual disability, namely MED12, MED13L, MED13, and CDK19.
methodsWe describe an international cohort of seven affected individuals harboring variants involving MED12L identified by array CGH, exome or genome sequencing.
resultsAll affected individuals presented with intellectual disability and/or developmental delay, including speech impairment. Other features included autism spectrum disorder, aggressive behavior, corpus callosum abnormality, and mild facial morphological features. Three individuals had a MED12L deletion or duplication. The other four individuals harbored single-nucleotide variants (one nonsense, one frameshift, and two splicing variants). Functional analysis confirmed a moderate and significant alteration of RNA synthesis in two individuals.
conclusionOverall data suggest that MED12L haploinsufficiency is responsible for intellectual disability and transcriptional defect. Our findings confirm that the integrity of this kinase module is a critical factor for neurological development.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.