Abstract
Cornelia de Lange syndrome (CdLS) is a severe genetic disorder characterised by multisystemic malformations. CdLS is due to pathogenetic variants in NIPBL, SMC1A, SMC3, RAD21 and HDAC8 genes which belong to the cohesin pathway. Cohesin plays a pivotal role in chromatid cohesion, gene expression, and DNA repair. In this review, we will discuss how perturbations in those biological processes contribute to CdLS phenotype and will emphasise the state-of-art of CdLS therapeutic approaches.
Keywords:
Cornelia de Lange syndrome; cohesin; gene dysregulation; genome instability; therapeutic approaches.
© Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Abnormalities, Multiple / diagnosis
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Abnormalities, Multiple / genetics*
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Abnormalities, Multiple / therapy
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Cell Cycle Proteins / genetics*
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Chondroitin Sulfate Proteoglycans / genetics
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Chromatids / genetics*
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Chromosomal Proteins, Non-Histone / genetics*
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Cohesins
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DNA-Binding Proteins / genetics
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De Lange Syndrome / diagnosis
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De Lange Syndrome / genetics*
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De Lange Syndrome / therapy
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Histone Deacetylases / genetics
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Humans
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Mutation / genetics
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Repressor Proteins / genetics
Substances
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Cell Cycle Proteins
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Chondroitin Sulfate Proteoglycans
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Chromosomal Proteins, Non-Histone
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DNA-Binding Proteins
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NIPBL protein, human
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RAD21 protein, human
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Repressor Proteins
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SMC3 protein, human
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structural maintenance of chromosome protein 1
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HDAC8 protein, human
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Histone Deacetylases