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Genetic basis of human left–right asymmetry disorders

Published online by Cambridge University Press:  27 January 2015

Hao Deng ,
Hong Xia  and
Sheng Deng
Hao Deng*
Affiliation:
Center for Experimental Medicine and Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha 410013, China
Hong Xia
Affiliation:
Center for Experimental Medicine and Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha 410013, China Department of Emergency, the Third Xiangya Hospital, Central South University, Changsha 410013, China
Sheng Deng
Affiliation:
Center for Experimental Medicine and Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha 410013, China Department of Pharmacy, Xiangya Hospital, Central South University, Changsha 410008, China
*
*Corresponding author: Hao Deng, Professor of Center for Experimental Medicine and Professor of Neurology, Executive/Vice Director of Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, 138 Tongzipo Road, Changsha, Hunan 410013, China. E-mail: [email protected]
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Abstract

Humans and other vertebrates exhibit left–right (LR) asymmetric arrangement of the internal organs, and failure to establish normal LR asymmetry leads to internal laterality disorders, including situs inversus and heterotaxy. Situs inversus is complete mirror-imaged arrangement of the internal organs along LR axis, whereas heterotaxy is abnormal arrangement of the internal thoraco-abdominal organs across LR axis of the body, most of which are associated with complex cardiovascular malformations. Both disorders are genetically heterogeneous with reduced penetrance, presumably because of monogenic, polygenic or multifactorial causes. Research in genetics of LR asymmetry disorders has been extremely prolific over the past 17 years, and a series of loci and disease genes involved in situs inversus and heterotaxy have been described. The review highlights the classification, chromosomal abnormalities, pathogenic genes and the possible mechanism of human LR asymmetry disorders.

Type
Review Article
Information
Expert Reviews in Molecular Medicine , Volume 16 , 2014 , e19
Copyright
Copyright © Cambridge University Press 2014 

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