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Accepted (AM)Open Access (License Unspecified), Open
Journal article
Congenital Heart Disease in Cornelia de Lange Syndrome: Phenotype and Genotype Analysis
American journal of medical genetics. Part A, v 158A(10), pp 2499-2505
10 Sep 2012
PMID: 22965847
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Congenital heart disease (CHD) has been reported to occur in 14–70% of individuals with Cornelia de Lange syndrome (CdLS, OMIM 122470) and accounts for significant morbidity and mortality when present. Charts from a cohort of 479 patients with CdLS were reviewed for cardiac evaluations, gene testing and information to determine phenotypic severity. Two hundred fifty-nine individuals had either documented structural defects or minor cardiac findings. The presence of CHD was then quantified as a function of mutation status and severity of CdLS: mild, moderate, or severe. Different types of CHD were also evaluated by mutation status to assess for any genotype –phenotype correlation.
NIPBL
,
SMC1A
, and
SMC3
mutation-positive patients were equally likely to have CHD, although the number of
SMC1A
and
SMC3
mutation-positive patients were small in comparison. Structural CHDs were more likely to be present in individuals with moderate and severe CdLS than in the mild phenotype. This study evaluates the trends of CHD seen in the CdLS population and correlates these findings with genotype.
Metrics
Details
- Title
- Congenital Heart Disease in Cornelia de Lange Syndrome: Phenotype and Genotype Analysis
- Creators
- Kathryn C. Chatfield - Children's Hospital ColoradoSamantha A. Schrier - Children's Hospital of PhiladelphiaJennifer Li - Children's Hospital of PhiladelphiaDinah Clark - Children's Hospital of PhiladelphiaManinder Kaur - Children's Hospital of PhiladelphiaAntonie D. Kline - Greater Baltimore Medical CenterMatthew A. Deardorff - Children's Hospital of PhiladelphiaLaird S. Jackson - Drexel UniversityElizabeth Goldmuntz - Children's Hospital of PhiladelphiaIan D. Krantz - Children's Hospital of PhiladelphiaLaird G Jackson
- Publication Details
- American journal of medical genetics. Part A, v 158A(10), pp 2499-2505
- Publisher
- Wiley
- Resource Type
- Journal article
- Language
- English
- Web of Science ID
- WOS:000310070700019
- Scopus ID
- 2-s2.0-84866502248
- Other Identifier
- 991019350667904721
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InCites Highlights
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Genetics & Heredity