X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

Musio A ¹,

Selicorni A ,

Focarelli ML ,

Gervasini C ,

Affiliations

1. Institute of Biomedical Technologies, Human Genome Department, Consiglio Nazionale delle Ricerche, Via Fratelli Cervi, 93, 20090 Segrate, Italy.
Authors
Musio A¹
(1 author)

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Nature Genetics, 09 Apr 2006, 38(5):528-530
https://doi.org/10.1038/ng1779 PMID: 16604071

Abstract

Cornelia de Lange syndrome is a multisystem developmental disorder characterized by facial dysmorphisms, upper limb abnormalities, growth delay and cognitive retardation. Mutations in the NIPBL gene, a component of the cohesin complex, account for approximately half of the affected individuals. We report here that mutations in SMC1L1 (also known as SMC1), which encodes a different subunit of the cohesin complex, are responsible for CdLS in three male members of an affected family and in one sporadic case.

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References

Articles referenced by this article (14)

NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.
Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T
Nat Genet, (6):636-641 2004
MED: 15146185
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.
Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJ, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi S, Lander AD, Calof AL, Li HH, [...] Jackson LG
Nat Genet, (6):631-635 2004
MED: 15146186
Chromosomal cohesin forms a ring.
Gruber S, Haering CH, Nasmyth K
Cell, (6):765-777 2003
MED: 12654244
Dynamic molecular linkers of the genome: the first decade of SMC proteins.
Losada A, Hirano T
Genes Dev, (11):1269-1287 2005
MED: 15937217
Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.
Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, van Gosliga D, Kayserili H, Xu C, Ozono K, Jabs EW, Inui K, Joenje H
Nat Genet, (5):468-470 2005
MED: 15821733
Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.
Schule B, Oviedo A, Johnston K, Pai S, Francke U
Am J Hum Genet, (6):1117-1128 2005
MED: 16380922
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.
Gillis LA, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A, Kline AD, Li HH, Devoto M, Jackson LG, Krantz ID
Am J Hum Genet, (4):610-623 2004
MED: 15318302
Drosophila nipped-B protein supports sister chromatid cohesion and opposes the stromalin/Scc3 cohesion factor to facilitate long-range activation of the cut gene.
Rollins RA, Korom M, Aulner N, Martens A, Dorsett D
Mol Cell Biol, (8):3100-3111 2004
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SMC1 involvement in fragile site expression.
Musio A, Montagna C, Mariani T, Tilenni M, Focarelli ML, Brait L, Indino E, Benedetti PA, Chessa L, Albertini A, Ried T, Vezzoni P
Hum Mol Genet, (4):525-533 2005
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Sister chromatid cohesion is required for postreplicative double-strand break repair in Saccharomyces cerevisiae.
Sjogren C, Nasmyth K
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MED: 11448778

Show 4 more references (10 of 14)

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Fdo1, Fkh1, Fkh2, and the Swi6-Mbp1 MBF complex regulate Mcd1 levels to impact eco1 rad61 cell growth in Saccharomyces cerevisiae.
Singh G, Skibbens RV
Genetics, 228(2):iyae128, 01 Oct 2024
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This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
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The multifaceted role of mitochondria in autism spectrum disorder.
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Compensation of gene dosage on the mammalian X.
Cecalev D, Viçoso B, Galupa R
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Cited by: 1 article | PMID: 39140247 | PMCID: PMC11361640
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Advancing the Clinical and Molecular Understanding of Cornelia de Lange Syndrome: A Multidisciplinary Pediatric Case Series and Review of the Literature.
Gruca-Stryjak K, Doda-Nowak E, Dzierla J, Wróbel K, Szymankiewicz-Bręborowicz M, Mazela J
J Clin Med, 13(8):2423, 21 Apr 2024
Cited by: 1 article | PMID: 38673696 | PMCID: PMC11050916
Review
This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
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Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange Syndrome.
Trujillano L, Ayerza-Casas A, Puisac B, Latorre-Pellicer A, Arnedo M, Lucia-Campos C, Gil-Salvador M, Parenti I, Kaiser FJ, Ramos FJ, Trujillano J, Pié J
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Cited by: 0 articles | PMID: 38694681 | PMCID: PMC11061870
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Wikipedia

https://en.wikipedia.org/wiki/SMC1A

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Diseases in OMIM (Showing 5 of 6)

CORNELIA DE LANGE SYNDROME 5; CDLS5(OMIM - 300882)
CORNELIA DE LANGE SYNDROME 1; CDLS1(OMIM - 122470)
COFFIN-SIRIS SYNDROME 1; CSS1(OMIM - 135900)
CORNELIA DE LANGE SYNDROME 2; CDLS2(OMIM - 300590)
620568(OMIM - 620568)

Go to all (6) records in OMIM

Proteins in UniProt (Showing 5 of 10)

Structural maintenance of chromosomes protein 1A(UniProt - Q6P2R1)
SMC hinge domain-containing protein(UniProt - Q6MZR8)
RecF/RecN/SMC N-terminal domain-containing protein(UniProt - Q68EN4)
RecF/RecN/SMC N-terminal domain-containing protein(UniProt - Q5H934)
Structural maintenance of chromosomes protein 1A(UniProt - Q14683)

Go to all (10) records in UniProt

GlyGen is an international glycobioinformatics knowledgebase funded by The National Institutes of Health to facilitate glycoscience research by integrating diverse kinds of information, including glycomics, genomics, proteomics (and glycoproteomics), cell biology, developmental biology and biochemistry.

https://www.glygen.org/publication/MED/16604071

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X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

Affiliations

ORCIDs linked to this article

Abstract

Full text links

References

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

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.

Chromosomal cohesin forms a ring.

Dynamic molecular linkers of the genome: the first decade of SMC proteins.

Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.

Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.

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

Drosophila nipped-B protein supports sister chromatid cohesion and opposes the stromalin/Scc3 cohesion factor to facilitate long-range activation of the cut gene.

SMC1 involvement in fragile site expression.

Sister chromatid cohesion is required for postreplicative double-strand break repair in Saccharomyces cerevisiae.

Citations & impact

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Citations of article over time

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Article citations

Fdo1, Fkh1, Fkh2, and the Swi6-Mbp1 MBF complex regulate Mcd1 levels to impact eco1 rad61 cell growth in Saccharomyces cerevisiae.

The multifaceted role of mitochondria in autism spectrum disorder.

Compensation of gene dosage on the mammalian X.

Advancing the Clinical and Molecular Understanding of Cornelia de Lange Syndrome: A Multidisciplinary Pediatric Case Series and Review of the Literature.

Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange Syndrome.

Other citations

Wikipedia

Data

Data that cites the article

Diseases in OMIM (Showing 5 of 6)

Proteins in UniProt (Showing 5 of 10)

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X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

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Abstract

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