High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
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DOI：
10.1038/s41598-017-12081-4
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发表时间：
2017-09-20
影响因子：
4.6
通讯作者：
Gau SS
中科院分区：
文献类型：
--
作者：
Chen CH;Chen HI;Chien WH;Li LH;Wu YY;Chiu YN;Tsai WC;Gau SS
罕见的基因组拷贝数变异（CNVs）（频率<1%）是自闭症谱系障碍（ASD）遗传基础的一部分。本研究旨在了解台湾ASD患者罕见CNV的范围。我们使用Affyscore全基因组人类SNP阵列6.0对335名来自台湾的ASD患者（299名男性，36名女性）进行了全基因组CNV筛查，并将罕见CNV的发生率与1093名对照受试者（525名男性，568名女性）进行了比较。我们发现，与对照组相比，ASD组中罕见CNV的总体负担显著增加，或者当罕见CNV按CNV的大小和类型分类时。进一步的分析证实了在我们的样本中与ASD强烈相关的区域存在几种罕见的CNV，如文献中所报道的。此外，我们在我们的样本中检测到几个新的私人致病性CNV和5名携带两个致病性CNV的患者。我们的数据表明，罕见的基因组CNV对我们的ASD患者的遗传景观做出了贡献。这些CNVs是高度异质性的，并且考虑到不完全的表达率、不同的表达率和个体遗传背景，对ASD的致病性CNVs的临床解释并不简单。
Rare genomic copy number variations (CNVs) (frequency <1%) contribute a part to the genetic underpinnings of autism spectrum disorders (ASD). The study aimed to understand the scope of rare CNV in Taiwanese patients with ASD. We conducted a genome-wide CNV screening of 335 ASD patients (299 males, 36 females) from Taiwan using Affymetrix Genome-Wide Human SNP Array 6.0 and compared the incidence of rare CNV with that of 1093 control subjects (525 males, 568 females). We found a significantly increased global burden of rare CNVs in the ASD group compared to the controls as a whole or when the rare CNVs were classified by the size and types of CNV. Further analysis confirmed the presence of several rare CNVs at regions strongly associated with ASD as reported in the literature in our sample. Additionally, we detected several new private pathogenic CNVs in our samples and five patients carrying two pathogenic CNVs. Our data indicate that rare genomic CNVs contribute a part to the genetic landscape of our ASD patients. These CNVs are highly heterogeneous, and the clinical interpretation of the pathogenic CNVs of ASD is not straightforward in consideration of the incomplete penetrance, varied expressivity, and individual genetic background.
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影响因子：
6.2
作者：
Chen CH;Huang CC;Cheng MC;Chiu YN;Tsai WC;Wu YY;Liu SK;Gau SS
通讯作者：
Gau SS
染色体微阵列在中国队列中智力障碍/发育迟缓、自闭症和多种先天性异常患者中的表现
影响因子：
1.3
作者：
Chong WW;Lo IF;Lam ST;Wang CC;Luk HM;Leung TY;Choy KW
通讯作者：
Choy KW
影响因子：
6.9
作者：
BAILEY, A;LECOUTEUR, A;RUTTER, M
通讯作者：
RUTTER, M
影响因子：
11
作者：
Arcos-Burgos, M.;Jain, M.;Muenke, M.
通讯作者：
Muenke, M.
影响因子：
3.5
作者：
Anney R;Klei L;Pinto D;Almeida J;Bacchelli E;Baird G;Bolshakova N;Bölte S;Bolton PF;Bourgeron T;Brennan S;Brian J;Casey J;Conroy J;Correia C;Corsello C;Crawford EL;de Jonge M;Delorme R;Duketis E;Duque F;Estes A;Farrar P;Fernandez BA;Folstein SE;Fombonne E;Gilbert J;Gillberg C;Glessner JT;Green A;Green J;Guter SJ;Heron EA;Holt R;Howe JL;Hughes G;Hus V;Igliozzi R;Jacob S;Kenny GP;Kim C;Kolevzon A;Kustanovich V;Lajonchere CM;Lamb JA;Law-Smith M;Leboyer M;Le Couteur A;Leventhal BL;Liu XQ;Lombard F;Lord C;Lotspeich L;Lund SC;Magalhaes TR;Mantoulan C;McDougle CJ;Melhem NM;Merikangas A;Minshew NJ;Mirza GK;Munson J;Noakes C;Nygren G;Papanikolaou K;Pagnamenta AT;Parrini B;Paton T;Pickles A;Posey DJ;Poustka F;Ragoussis J;Regan R;Roberts W;Roeder K;Roge B;Rutter ML;Schlitt S;Shah N;Sheffield VC;Soorya L;Sousa I;Stoppioni V;Sykes N;Tancredi R;Thompson AP;Thomson S;Tryfon A;Tsiantis J;Van Engeland H;Vincent JB;Volkmar F;Vorstman JA;Wallace S;Wing K;Wittemeyer K;Wood S;Zurawiecki D;Zwaigenbaum L;Bailey AJ;Battaglia A;Cantor RM;Coon H;Cuccaro ML;Dawson G;Ennis S;Freitag CM;Geschwind DH;Haines JL;Klauck SM;McMahon WM;Maestrini E;Miller J;Monaco AP;Nelson SF;Nurnberger JI Jr;Oliveira G;Parr JR;Pericak-Vance MA;Piven J;Schellenberg GD;Scherer SW;Vicente AM;Wassink TH;Wijsman EM;Betancur C;Buxbaum JD;Cook EH;Gallagher L;Gill M;Hallmayer J;Paterson AD;Sutcliffe JS;Szatmari P;Vieland VJ;Hakonarson H;Devlin B
通讯作者：
Devlin B