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Article

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.

The Journal of clinical investigation - 1 Feb 2015

Yuan Bo, Pehlivan Davut, Karaca Ender, Patel Nisha, Charng Wu-Lin, Gambin Tomasz, Gonzaga-Jauregui Claudia, Sutton V Reid, Yesil Gozde, Bozdogan Sevcan Tug, Tos Tulay, Koparir Asuman, Koparir Erkan, Beck Christine R, Gu Shen, Aslan Huseyin, Yuregir Ozge Ozalp, Al Rubeaan Khalid, Alnaqeb Dhekra, Alshammari Muneera J, Bayram Yavuz, Atik Mehmed M, Aydin Hatip, Geckinli B Bilge, Seven Mehmet, Ulucan Hakan, Fenercioglu Elif, Ozen Mustafa, Jhangiani Shalini, Muzny Donna M, Boerwinkle Eric, Tuysuz Beyhan, Alkuraya Fowzan S, Gibbs Richard A, Lupski James R

Abstract excerpt

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....

Topics

Adolescent
Adult
Cell Cycle Proteins
Child
Child, Preschool
Chondroitin Sulfate Proteoglycans
Chromosomal Proteins, Non-Histone

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Codon, Nonsense

De Lange Syndrome

Exome

Exonucleases

Gene Expression Profiling

Gene Expression Regulation

Genome-Wide Association Study

Heterozygote

Histone Deacetylases

Histone-Lysine N-Methyltransferase

Humans

Source

Open in PubMed Open full text

Identifiers

PMID: 25574841
DOI: 10.1172/JCI77435
PMCID: PMC4319410

Genes

SMC3
HDAC8
NIPBL
RAD21
TAF6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.PMID 25574841Read ↗

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.Semantic proximity Read ↗

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.Semantic proximity Read ↗

Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.Semantic proximity Read ↗

Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome.Semantic proximity Read ↗

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.Semantic proximity Read ↗

Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach.Semantic proximity Read ↗

Cornelia de Lange Syndrome as Paradigm of ChromatinopathiesSemantic proximity Read ↗

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.Semantic proximity Read ↗

Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.Semantic proximity Read ↗

Clinical and molecular analysis in a cohort of Chinese children with Cornelia de Lange syndrome.Semantic proximity Read ↗

Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype.Semantic proximity Read ↗

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