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

Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Research Abstract Details 

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Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Abstract Text:

Matthew A Deardorff,Maninder Kaur,Dinah Yaeger,Abhinav Rampuria,Sergey Korolev,Juan Pie,Concepcion , Arnedo,Bart Loeys,Antonie D Kline,Meredith Wilson,Kaj Lillquist,Victoria Siu,Feliciano J Ramos,Antonio Musio,Laird S Jackson,Dale Dorsett,Ian D Krantz,Matthew A Deardorff,Maninder Kaur,Dinah Yaeger,Abhinav Rampuria,Sergey Korolev,Juan Pie,Concepcion Gil-Rodríguez,María Arnedo,Bart Loeys,Antonie D Kline,Meredith Wilson,Kaj Lillquist,Victoria Siu,Feliciano J Ramos,Antonio Musio,Laird S Jackson,Dale Dorsett,Ian D Krantz,

Mutations in the cohesin regulators NIPBL and ESCO2 are causative of the Cornelia de Lange syndrome (CdLS) and Roberts or SC phocomelia syndrome, respectively. Recently, mutations in the cohesin complex structural component SMC1A have been identified in two probands with features of CdLS. Here, we report the identification of a mutation in the gene encoding the complementary subunit of the cohesin heterodimer, SMC3, and 14 additional SMC1A mutations. All mutations are predicted to retain an open reading frame, and no truncating mutations were identified. Structural analysis of the mutant SMC3 and SMC1A proteins indicate that all are likely to produce functional cohesin complexes, but we posit that they may alter their chromosome binding dynamics. Our data indicate that SMC3 and SMC1A mutations (1) contribute to approximately 5% of cases of CdLS, (2) result in a consistently mild phenotype with absence of major structural anomalies typically associated with CdLS, and (3) in some instances, result in a phenotype that approaches that of apparently nonsyndromic mental retardation.

Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Publishing Authors By Initials

MA Deardorff,M Kaur,D Yaeger,A Rampuria,S Korolev,J Pie,C ,M Arnedo,B Loeys,AD Kline,M Wilson,K Lillquist,V Siu,FJ Ramos,A Musio,LS Jackson,D Dorsett,ID Krantz,MA Deardorff,M Kaur,D Yaeger,A Rampuria,S Korolev,J Pie,C Gil-Rodríguez,M Arnedo,B Loeys,AD Kline,M Wilson,K Lillquist,V Siu,FJ Ramos,A Musio,LS Jackson,D Dorsett,ID Krantz,

For similar genetic phenomena: variation (genetics) research abstracts see: genetic phenomena: variation (genetics) research

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Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: American journal of human genetics

VOLUME: 80

Page Numbers: 485-94

Journal Abbreviation: Am. J. Hum. Genet.

ISSN: 0002-9297

DAY: 17

MONTH: 01

YEAR: 2007

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

Number of References:

LANGUAGE: eng

NlmUniqueID: 370475

Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Keywords Mesh Terms:

KEYWORDS: Variation (Genetics)

MESH TERMS: genetics

Chemical & Substance for Abstract: Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Information

Substance Name: structural maintenance of chromosome pro

Registry Number: 0

Grant and Affiliation Information for Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.

AFFILIATION: Division of Human and Molecular Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104-4318, USA.

Country: United States

AGENCY: United States NICHD

GRANT: R01 HD39323

ACRONYM: HD

MEDLINETA: Am J Hum Genet

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ACCESSION NUMBER: NM_006306

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