文章基本信息

标题：Novel Insight Into Intellectual Disability; A Review Article
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作者：Negin Parsamanesh ; Ebrahim Miri-Moghaddam
期刊名称：Gene, Cell and Tissue
印刷版ISSN：2345-6841
出版年度：2018
卷号：5
期号：4
DOI：10.5812/gct.84401
出版社：Zahedan University of Medical Sciences
摘要：Intellectual disability or cognitive disturbance is a prevalent neurological problem determined by the low-level intelligence quotient (< 70). Intellectual disability affects approximately 1% to 3% of the general population. The collaboration of environmental factors and heterogeneous genetic agents can be a cause of intellectual disability in X-linked, autosomal dominant, recessive, and inheritance of mitochondria patterns. Spontaneous mutations in germ line may have vital phenotypic outcomes when involved in bases of the whole genome. Discovering the etiology of intellectual disability plays a role in precise diagnosis and can help the couple plan in the near future. Development of genome sequencing can improve mutation detection in a single experiment. These tools have been shown as a new way for the conception of the molecular pathway in a genetic disorder. This finding can have a profound implication for early diagnosis and treatment development. This study reviewed recent reports of de novo mutations detection of intellectual disability in the Iranian population by whole exome sequencing approaches.
关键词：Intellectual Disability; Mutation; Genetic Factors; Syndrome; Chromosomal Abnormality