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, includingsitus inversusandheterotaxy.Situs inversusis complete mirror-imaged arrangement of the internal organs along LR axis, whereasheterotaxyis 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 insitus inversusandheterotaxyhave been described. The review highlights the classification, chromosomal abnormalities, pathogenic genes and the possible mechanism of human LR asymmetry disorders.

中文翻译：

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人类左右不对称障碍的遗传基础

人类和其他脊椎动物表现出内部器官的左右 (LR) 不对称排列，未能建立正常的 LR 不对称会导致内部偏侧性障碍，包括位置反转和异向性.逆位是内部器官沿 LR 轴的完整镜像排列，而异向性是指胸腹内脏器横穿身体LR轴的异常排列，多与复杂的心血管畸形有关。这两种疾病都具有遗传异质性，外显率降低，可能是由于单基因、多基因或多因素原因。在过去的 17 年里，LR 不对称疾病的遗传学研究非常多产，一系列位点和疾病基因参与位置反转和异向性已被描述。该综述重点介绍了人类 LR 不对称疾病的分类、染色体异常、致病基因和可能的机制。