Journal article
Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation
American journal of human genetics, v 80(3), pp 485-494
17 Jan 2007
PMID: 17273969
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
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 ∼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.
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Details
- Title
- Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation
- Creators
- Matthew A. Deardorff - University of PennsylvaniaManinder Kaur - Children's Hospital of PhiladelphiaDinah Yaeger - Children's Hospital of PhiladelphiaAbhinav Rampuria - Children's Hospital of PhiladelphiaSergey Korolev - Department of Biochemistry and Molecular Biology Saint Louis University School of Medicine St. Louis MOJuan Pie - Universidad de ZaragozaConcepcion Gil-Rodríguez - Universidad de ZaragozaMaría ArnedoBart Loeys - Ghent University HospitalAntonie D. Kline - Institute of Human GeneticsMeredith Wilson - Children's Hospital at WestmeadKaj Lillquist - Vejle SygehusVictoria Siu - Children's Hospital of Western OntarioFeliciano J. Ramos - Universidad de ZaragozaAntonio Musio - Institute of Biomedical TechnologiesLaird S. Jackson - Drexel UniversityDale Dorsett - Department of Biochemistry and Molecular Biology Saint Louis University School of Medicine St. Louis MOIan D. Krantz - University of PennsylvaniaLaird G Jackson
- Publication Details
- American journal of human genetics, v 80(3), pp 485-494
- Publisher
- The American Society of Human Genetics
- Resource Type
- Journal article
- Language
- English
- Web of Science ID
- WOS:000244403300009
- Scopus ID
- 2-s2.0-33847196427
- Other Identifier
- 991019350679804721
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- Collaboration types
- Domestic collaboration
- International collaboration
- Web of Science research areas
- Genetics & Heredity