High-resolution chromosome ideogram representation of currently recognized genes for autism spectrum disorders.
High-resolution chromosome ideogram representation of currently recognized genes for autism spectrum disorders.
复制标题
自闭症谱系疾病的当前公认基因的高分辨率染色体意识形态图。
DOI：
10.3390/ijms16036464
复制
发表时间：
2015-03-20
影响因子：
5.6
通讯作者：
Manzardo AM
中科院分区：
文献类型：
--
作者：
Butler MG;Rafi SK;Manzardo AM
最近，自闭症相关的研究集中在确定各种基因和干扰途径，导致遗传异质性组的自闭症谱系障碍（ASD）。随着遗传技术的进步和可搜索基因组数据库的扩大，人们对自闭症相关基因的认识也大大增加。我们编制了一份已知的和临床相关的自闭症谱系障碍基因的主列表，这些基因通过搜索与自闭症和遗传学相关的关键词以及权威的自闭症相关公共访问网站（如西蒙斯基金会自闭症研究所自闭症基因组数据库）的同行评审医学文献来源中的支持证据进行鉴定，该数据库致力于基因发现和表征。我们的列表由792个基因组成，这些基因以字母顺序排列在表格中，基因符号放置在高分辨率的人类染色体表意图上，从而使临床和实验室遗传学家和遗传咨询师能够方便地访问ASD基因的位置和分布的视觉图像。在染色体区域或断裂点带位点处具有疑似/确诊ASD基因的患者中观察到的表型的有意义的相关性可以为诊断和基于基因的个性化护理提供信息，并为家庭提供遗传咨询。
Recently, autism-related research has focused on the identification of various genes and disturbed pathways causing the genetically heterogeneous group of autism spectrum disorders (ASD). The list of autism-related genes has significantly increased due to better awareness with advances in genetic technology and expanding searchable genomic databases. We compiled a master list of known and clinically relevant autism spectrum disorder genes identified with supporting evidence from peer-reviewed medical literature sources by searching key words related to autism and genetics and from authoritative autism-related public access websites, such as the Simons Foundation Autism Research Institute autism genomic database dedicated to gene discovery and characterization. Our list consists of 792 genes arranged in alphabetical order in tabular form with gene symbols placed on high-resolution human chromosome ideograms, thereby enabling clinical and laboratory geneticists and genetic counsellors to access convenient visual images of the location and distribution of ASD genes. Meaningful correlations of the observed phenotype in patients with suspected/confirmed ASD gene(s) at the chromosome region or breakpoint band site can be made to inform diagnosis and gene-based personalized care and provide genetic counselling for families.
登录
查看更多内容
影响因子：
64.8
作者：
Iossifov, Ivan;O'Roak, Brian J.;Sanders, Stephan J.;Ronemus, Michael;Krumm, Niklas;Levy, Dan;Stessman, Holly A.;Witherspoon, Kali T.;Vives, Laura;Patterson, Karynne E.;Smith, Joshua D.;Paeper, Bryan;Nickerson, Deborah A.;Dea, Jeanselle;Dong, Shan;Gonzalez, Luis E.;Mandell, Jeffrey D.;Mane, Shrikant M.;Murtha, Michael T.;Sullivan, Catherine A.;Walker, Michael F.;Waqar, Zainulabedin;Wei, Liping;Willsey, A. Jeremy;Yamrom, Boris;Lee, Yoon-ha;Grabowska, Ewa;Dalkic, Ertugrul;Wang, Zihua;Marks, Steven;Andrews, Peter;Leotta, Anthony;Kendall, Jude;Hakker, Inessa;Rosenbaum, Julie;Ma, Beicong;Rodgers, Linda;Troge, Jennifer;Narzisi, Giuseppe;Yoon, Seungtai;Schatz, Michael C.;Ye, Kenny;McCombie, W. Richard;Shendure, Jay;Eichler, Evan E.;State, Matthew W.;Wigler, Michael
通讯作者：
Wigler, Michael
影响因子：
3.9
作者：
Constantino, JN;Davis, SA;Reich, W
通讯作者：
Reich, W
影响因子：
2.7
作者：
Campbell, Malcolm G.;Kohane, Isaac S.;Kong, Sek Won
通讯作者：
Kong, Sek Won
影响因子：
--
作者：
Butler, Merlin G;Youngs, Erin L;Hellings, Jessica A
通讯作者：
Hellings, Jessica A
影响因子：
11.1
作者：
Holt, Richard;Monaco, Anthony P.
通讯作者：
Monaco, Anthony P.