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首页> 外文期刊>Central European Journal of Biology >Genetic Defects Underlie the Non-syndromic Autosomal Recessive Intellectual Disability (NS-ARID)
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Genetic Defects Underlie the Non-syndromic Autosomal Recessive Intellectual Disability (NS-ARID)

机译：非综合症常染色体隐性遗传性智力障碍（NS-ARID）的遗传缺陷

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摘要

Intellectual disability (ID) is a neurodevelopmental disorder which appears frequently as the result of genetic mutations and may be syndromic (S-ID) or non-syndromic (NS-ID). ID causes an important economic burden, for patient's family, health systems, and society. Identifying genes that cause S-ID can easily be evaluated due to the clinical symptoms or physical anomalies. However, in the case of NS-ID due to the absence of co-morbid features, the latest molecular genetic techniques can be used to understand the genetic defects that underlie it. Recent studies have shown that non-syndromic autosomal recessive (NS-ARID) is extremely heterogeneous and contributes much more than X-linked ID. However, very little is known about the genes and loci involved in NS-ARID relative to X-linked ID, and whose complete genetic etiology remains obscure. In this review article, the known genetic etiology of NS-ARID and possible relationships between genes and the associated molecular pathways of their encoded proteins has been reviewed which will enhance our understanding about the underlying genes and mechanisms in NS-ARID.
机译：智力障碍（ID）是一种神经发育障碍，由于遗传突变而经常出现，可能是综合症（S-ID）或非综合症（NS-ID）。 ID对患者的家庭，卫生系统和社会造成重要的经济负担。由于临床症状或身体异常，可以轻松评估导致S-ID的基因。但是，在由于缺乏共病特征而导致NS-ID的情况下，可以使用最新的分子遗传技术来了解构成其基础的遗传缺陷。最近的研究表明，非综合征性常染色体隐性遗传（NS-ARID）非常异质，并且比X连锁ID贡献更大。但是，相对于X连锁ID，关于NS-ARID的基因和基因座知之甚少，并且其完整的遗传病因仍然不清楚。在这篇综述文章中，已对NS-ARID的已知遗传病因及其相关基因与编码蛋白的相关分子途径之间的可能关系进行了综述，这将增进我们对NS-ARID中潜在基因和机制的了解。

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