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Chromosomal Imbalances in Patients with Congenital Cardiac Defects: A Meta‐analysis Reveals Novel Potential Critical Regions Involved in Heart Development

dc.contributor.authorThorsson, Thoren_US
dc.contributor.authorRussell, William W.en_US
dc.contributor.authorEl‐kashlan, Nouren_US
dc.contributor.authorSoemedi, Rachelen_US
dc.contributor.authorLevine, Jonathanen_US
dc.contributor.authorGeisler, Sarah B.en_US
dc.contributor.authorAckley, Todden_US
dc.contributor.authorTomita‐mitchell, Aoyen_US
dc.contributor.authorRosenfeld, Jill A.en_US
dc.contributor.authorTöpf, Anaen_US
dc.contributor.authorTayeh, Marwanen_US
dc.contributor.authorGoodship, Judithen_US
dc.contributor.authorInnis, Jeffrey W.en_US
dc.contributor.authorKeavney, Bernarden_US
dc.contributor.authorRussell, Mark W.en_US
dc.date.accessioned2015-07-01T20:56:11Z
dc.date.available2016-07-05T17:27:58Zen
dc.date.issued2015-05en_US
dc.identifier.citationThorsson, Thor; Russell, William W.; El‐kashlan, Nour ; Soemedi, Rachel; Levine, Jonathan; Geisler, Sarah B.; Ackley, Todd; Tomita‐mitchell, Aoy ; Rosenfeld, Jill A.; Töpf, Ana ; Tayeh, Marwan; Goodship, Judith; Innis, Jeffrey W.; Keavney, Bernard; Russell, Mark W. (2015). "Chromosomal Imbalances in Patients with Congenital Cardiac Defects: A Metaâ analysis Reveals Novel Potential Critical Regions Involved in Heart Development." Congenital Heart Disease (3): 193-208.en_US
dc.identifier.issn1747-079Xen_US
dc.identifier.issn1747-0803en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/111936
dc.description.abstractObjectiveCongenital cardiac defects represent the most common group of birth defects, affecting an estimated six per 1000 births. Genetic characterization of patients and families with cardiac defects has identified a number of genes required for heart development. Yet, despite the rapid pace of these advances, mutations affecting known genes still account for only a small fraction of congenital heart defects suggesting that many more genes and developmental mechanisms remain to be identified.DesignIn this study, we reviewed 1694 described cases of patients with cardiac defects who were determined to have a significant chromosomal imbalance (a deletion or duplication). The cases were collected from publicly available databases (DECIPHER, ISCA, and CHDWiki) and from recent publications. An additional 68 nonredundant cases were included from the University of Michigan. Cases with multiple chromosomal or whole chromosome defects (trisomy 13, 18, 21) were excluded, and cases with overlapping deletions and/or insertions were grouped to identify regions potentially involved in heart development.ResultsSeventy‐nine chromosomal regions were identified in which 5 or more patients had overlapping imbalances. Regions of overlap were used to determine minimal critical domains most likely to contain genes or regulatory elements involved in heart development. This approach was used to refine the critical regions responsible for cardiac defects associated with chromosomal imbalances involving 1q24.2, 2q31.1, 15q26.3, and 22q11.2.ConclusionsThe pattern of chromosomal imbalances in patients with congenital cardiac defects suggests that many loci may be involved in normal heart development, some with very strong and direct effects and others with less direct effects. Chromosomal duplication/deletion mapping will provide an important roadmap for genome‐wide sequencing and genetic mapping strategies to identify novel genes critical for heart development.en_US
dc.publisherWiley Periodicals, Inc.en_US
dc.subject.otherCongenital Heart Defectsen_US
dc.subject.otherHeart Developmenten_US
dc.subject.otherChromosomal Imbalanceen_US
dc.titleChromosomal Imbalances in Patients with Congenital Cardiac Defects: A Meta‐analysis Reveals Novel Potential Critical Regions Involved in Heart Developmenten_US
dc.typeArticleen_US
dc.rights.robotsIndexNoFollowen_US
dc.subject.hlbsecondlevelInternal Medicine and Specialtiesen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.description.peerreviewedPeer Revieweden_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/111936/1/chd12179.pdf
dc.identifier.doi10.1111/chd.12179en_US
dc.identifier.sourceCongenital Heart Diseaseen_US
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dc.owningcollnameInterdisciplinary and Peer-Reviewed


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