Trial reportThe Journal of clinical investigation2015
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
Trial report in The Journal of clinical investigation, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 99 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
99 citing papers in PubMed, 156 citations in OpenAlex.
- Severe Neonatal Presentation of Cornelia de Lange Syndrome With Fatal Outcome: A Case Report.Cureus · 2026Article
- Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.Nature communications · 2026Article
- Non-Classic Cornelia de Lange Syndrome Due toChildren (Basel, Switzerland) · 2025Review
- Wiedemann-Steiner syndrome: description of genetic profiles and clinical phenotypes of 10 Korean pediatric patients.BMC medical genomics · 2025Article
- The phenotypic spectrum of the Cornelia de Lange-like "Alazami-Yuan syndrome": A case report of the 7th diagnosed individual and review of the literature.Clinical case reports · 2025Article
- ANKRD11 binding to cohesin suggests a connection between KBG syndrome and Cornelia de Lange syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.Human mutation · 2025Article
- Case Report: A novel intronic variant ofFrontiers in genetics · 2025Article
- O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome.The Journal of biological chemistry · 2024Review
- SMC3 contributes to heart development by regulating super-enhancer associated genes.Experimental & molecular medicine · 2024Article
- Identification of two novel heterozygous variants of SMC3 with Cornelia de Lange syndrome.Molecular genetics & genomic medicine · 2024Article
- Advancing the Clinical and Molecular Understanding of Cornelia de Lange Syndrome: A Multidisciplinary Pediatric Case Series and Review of the Literature.Journal of clinical medicine · 2024Review
- Gastrulation-stage gene expression inScience advances · 2024Article
- Pattern Recognition of Common Multiple Congenital Malformation Syndromes with Underlying Chromatinopathy.Journal of pediatric genetics · 2024Article
- Inhibition of HDAC8 Reduces the Proliferation of Adult Neural Stem Cells in the Subventricular Zone.International journal of molecular sciences · 2024Article
- An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype.Frontiers in genetics · 2024Article
- The impact of the Turkish population variome on the genomic architecture of rare disease traits.Genetics in medicine open · 2024Article
- Article
- Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.American journal of medical genetics. Part A · 2023Article
- Cohesin: an emerging master regulator at the heart of cardiac development.Molecular biology of the cell · 2023Article
39 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
35 authors at 11 institutions in 3 countries.
Funding
Abstract
Cornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder that presents with extensive phenotypic variability, including facial dysmorphism, developmental delay/intellectual disability (DD/ID), abnormal extremities, and hirsutism. About 65% of patients harbor mutations in genes that encode subunits or regulators of the cohesin complex, including NIPBL, SMC1A, SMC3, RAD21, and HDAC8. Wiedemann-Steiner syndrome (WDSTS), which shares CdLS phenotypic features, is caused by mutations in lysine-specific methyltransferase 2A (KMT2A). Here, we performed whole-exome sequencing (WES) of 2 male siblings clinically diagnosed with WDSTS; this revealed a hemizygous, missense mutation in SMC1A that was predicted to be deleterious. Extensive clinical evaluation and WES of 32 Turkish patients clinically diagnosed with CdLS revealed the presence of a de novo heterozygous nonsense KMT2A mutation in 1 patient without characteristic WDSTS features. We also identified de novo heterozygous mutations in SMC3 or SMC1A that affected RNA splicing in 2 independent patients with combined CdLS and WDSTS features. Furthermore, in families from 2 separate world populations segregating an autosomal-recessive disorder with CdLS-like features, we identified homozygous mutations in TAF6, which encodes a core transcriptional regulatory pathway component. Together, our data, along with recent transcriptome studies, suggest that CdLS and related phenotypes may be "transcriptomopathies" rather than cohesinopathies.
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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.