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Article

Could a patient with SMC1A duplication be classified as a human cohesinopathy?

Clinical genetics - 1 May 2014

Baquero-Montoya C, Gil-Rodríguez M C, Teresa-Rodrigo M E, Hernández-Marcos M, Bueno-Lozano G, Bueno-Martínez I, Remeseiro S, Fernández-Hernández R, Bassecourt-Serra M, Rodríguez de Alba M, Queralt E, Losada A, Puisac B, Ramos F J, Pié J

Abstract excerpt

The disorders caused by mutations in genes encoding subunits and accessory proteins of cohesin complex are collectively termed as cohesinopathies. The best known cohesinopathy is Cornelia de Lange Syndrome (CdLS), which is a multisystem developmental disorder characterized by facial dysmorphism, limb malformations, growth and cognitive impairment. Mutations in five genes, encoding subunits of the cohesin complex...

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Share to Cell Cycle Proteins
Share to Chromosomal Proteins, Non-Histone

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, X

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Source

Identifiers

PMID: 23683030
DOI: 10.1111/cge.12194

Genes

HDAC8
NIPBL
RAD21
SMC3

Provenance

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

Related research

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Research trail→

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Could a patient with SMC1A duplication be classified as a human cohesinopathy?PMID 23683030Read ↗

Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.Semantic proximity Read ↗

Cornelia de Lange syndrome, cohesin, and beyond.Semantic proximity Read ↗

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

Cornelia de Lange syndrome.Semantic proximity Read ↗

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

RAD21 mutations cause a human cohesinopathy.Semantic proximity Read ↗

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.Semantic proximity Read ↗

Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL.Semantic proximity Read ↗

Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.Semantic proximity Read ↗

Mutation spectrum and genotype-phenotype correlation in 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 ↗

Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.Semantic proximity Read ↗

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