Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.

doi:10.1038/ejhg.2011.175

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Article

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.

European journal of human genetics : EJHG - 1 Mar 2012

Braunholz Diana, Hullings Melanie, Gil-Rodríguez María Concepcion, Fincher Christopher T, Mallozzi Mark B, Loy Elizabeth, Albrecht Melanie, Kaur Maninder, Limon Janusz, Rampuria Abhinav, Clark Dinah, Kline Antonie, Dalski Andreas, Eckhold Juliane, Tzschach Andreas, Hennekam Raoul, Gillessen-Kaesbach Gabriele, Wierzba Jolanta, Krantz Ian D, Deardorff Matthew A, Kaiser Frank J

Abstract excerpt

Cornelia de Lange syndrome (CdLS; or Brachmann-de Lange syndrome) is a dominantly inherited congenital malformation disorder with features that include characteristic facies, cognitive delays, growth retardation and limb anomalies. Mutations in nearly 60% of CdLS patients have been identified in NIPBL, which encodes a regulator of the sister chromatid cohesion complex. NIPBL, also known as delangin, is a homolog...

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Identifiers

PMID: 21934712
DOI: 10.1038/ejhg.2011.175
PMCID: PMC3283175

Genes

MAU2
NIPBL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.PMID 21934712Read ↗

NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.Semantic proximity Read ↗

MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome.Semantic proximity Read ↗

NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.Semantic proximity Read ↗

<i>MAU2</i> and <i>NIPBL</i> variants in Cornelia de Lange syndrome reveal MAU2-independent loading of cohesin and uncover a protective mechanism against early truncating mutations in NIPBLSemantic proximity Read ↗

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Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtypeSemantic proximity Read ↗

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.Semantic proximity Read ↗

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