干旱区生态环境知识资源中心(Arid): Contribution of Iran in Elucidating the Genetic Causes of Autosomal Recessive Intellectual Disability

Arid

	Contribution of Iran in Elucidating the Genetic Causes of Autosomal Recessive Intellectual Disability
	Ataei, Reza; Khoshbakht, Shahrouz; Beheshtian, Maryam; Abedini, Seyedeh Sedigheh; Behravan, Hanieh; Dizghandi, Saeed Esmaeili; Ghodratpour, Fatemeh; Mirzaei, Sepide; Bahrami, Fatemeh; Akbari, Mojdeh; Keshavarzi, Fatemeh; Kahrizi, Kimia; Najmabadi, Hossein
通讯作者	Najmabadi, Hossein
来源期刊	ARCHIVES OF IRANIAN MEDICINE
ISSN	1029-2977
EISSN	1735-3947
出版年	2019
卷号	22 期号:8 页码:461-471
英文摘要	Many genes with different inheritance modes contribute to the pathogenicity of intellectual disability (ID) making it the most known genetically heterogeneous disorder. Advanced next-generation sequencing (NGS) technologies have helped researchers identify genes underlying ID at an exponential pace. As a consanguineous country, Iran is a hotspot for discovering novel autosomal recessive intellectual disability (ARID) genes. Here, we aimed to review and compare reported ARID gene discovery both in Iran and globally, and pinpoint the research areas that need to be developed in future. We studied published articles and reviews on all known ID genes. In parallel, the gene-discovery research carried out on the Iranian population were also reviewed to determine the contribution of Iran to identifying novel ID genes. Also we tried to find supporting evidence on the causative role of novel genes identified in Iran including confirmatory functional studies and existence of more affected families. We also briefly reviewed the current therapeutic approaches under development for a subset of eligible ID cases. In total, 8% of all ID and 11.5% of all ARID genes described so far have been identified via studies on Iranian population. Functional studies have been performed on 29% of the genes identified in Iran. More than one affected family has been reported for many of these genes, supporting their causative role in ID pathogenesis. Despite the notable contribution of Iran in gene-discovery research, further functional studies on the identified genes are required.
英文关键词	Autosomal recessive Consanguineous Intellectual disability Iran Next-generation sequencing
类型	Review
语种	英语
国家	Iran
收录类别	SCI-E
WOS记录号	WOS:000484777300006
WOS关键词	AUTISM SPECTRUM DISORDER ; MENTAL-RETARDATION ; COMMON VARIANTS ; CONSANGUINEOUS FAMILIES ; DEVELOPMENTAL DELAY ; SEQUENCING REVEALS ; GABA(A) RECEPTOR ; BINDING PROTEIN ; HDAC INHIBITORS ; MUTATIONS
WOS类目	Medicine, General & Internal
WOS研究方向	General & Internal Medicine
资源类型	期刊论文
条目标识符	http://119.78.100.177/qdio/handle/2XILL650/214376
作者单位	Univ Social Welf & Rehabil Sci, Genet Res Ctr, Daneshjoo Blvd,Evin St, Tehran 1985713834, Iran
推荐引用方式 GB/T 7714	Ataei, Reza,Khoshbakht, Shahrouz,Beheshtian, Maryam,et al. Contribution of Iran in Elucidating the Genetic Causes of Autosomal Recessive Intellectual Disability[J],2019,22(8):461-471.
APA	Ataei, Reza.,Khoshbakht, Shahrouz.,Beheshtian, Maryam.,Abedini, Seyedeh Sedigheh.,Behravan, Hanieh.,...&Najmabadi, Hossein.(2019).Contribution of Iran in Elucidating the Genetic Causes of Autosomal Recessive Intellectual Disability.ARCHIVES OF IRANIAN MEDICINE,22(8),461-471.
MLA	Ataei, Reza,et al."Contribution of Iran in Elucidating the Genetic Causes of Autosomal Recessive Intellectual Disability".ARCHIVES OF IRANIAN MEDICINE 22.8(2019):461-471.