Catana Andreea, Apostu Adina Patricia
Genetics Department, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.
Clujul Med. 2017;90(2):139-146. doi: 10.15386/cjmed-701. Epub 2017 Apr 25.
Laterality defects in humans, situs inversus and heterotaxy, are rare disorders, with an incidence of 1:8000 to 1:10 000 in the general population, and a multifactorial etiology. It has been proved that 1.44/10 000 of all cardiac problems are associated with malformations of left-right asymmetry and heterotaxy accounts for 3% of all congenital heart defects. It is considered that defects of situs appear due to genetic and environmental factors. Also, there is evidence that the ciliopathies (defects of structure or function) are involved in development abnormalities. Over 100 genes have been reported to be involved in left-right patterning in model organisms, but only a few are likely to candidate for left-right asymmetry defects in humans. Left-right asymmetry disorders are genetically heterogeneous and have variable manifestations (from asymptomatic to serious clinical problems). The discovery of the right mechanism of left-right development will help explain the clinical complexity and may contribute to a therapy of these disorders.
人类的左右侧缺陷，如内脏反位和异位，是罕见的疾病，在普通人群中的发病率为1:8000至1:10000，病因是多因素的。已证实，所有心脏问题中有1.44/10000与左右不对称畸形相关，而异位占所有先天性心脏缺陷的3%。人们认为，位置缺陷是由遗传和环境因素引起的。此外，有证据表明纤毛病（结构或功能缺陷）与发育异常有关。据报道，超过100个基因参与模式生物的左右模式形成，但只有少数可能是人类左右不对称缺陷的候选基因。左右不对称障碍在遗传上是异质性的，表现多样（从无症状到严重临床问题）。发现左右发育的正确机制将有助于解释临床复杂性，并可能有助于治疗这些疾病。
