Copy number variation in Han Chinese individuals with autism spectrum disorder.
Copy number variation in Han Chinese individuals with autism spectrum disorder.
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DOI：
10.1186/1866-1955-6-34
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发表时间：
2014
影响因子：
4.9
通讯作者：
Scherer SW
中科院分区：
文献类型：
--
作者：
Gazzellone MJ;Zhou X;Lionel AC;Uddin M;Thiruvahindrapuram B;Liang S;Sun C;Wang J;Zou M;Tammimies K;Walker S;Selvanayagam T;Wei J;Wang Z;Wu L;Scherer SW
自闭症谱系障碍（ASDs）是一组具有明确遗传病因的神经发育疾病。罕见（频率<1%）拷贝数变异（CNVs）占相关遗传事件的一部分，但这些事件在非欧洲ASD人群中的贡献尚未得到很好的研究。在这里，我们报告了在汉族背景的ASD个体队列中检测到的罕见CNVs。从中国哈尔滨招募的104名ASD先证者及其父母中获得DNA样本。样品在Affymetrix CytoScan HD平台上进行基因分型。通过比较来自安大略省的873名技术匹配对照和1235名汉族人口对照的数据，确定了罕见的CNVs。在先证者中，8.6%至少有1个新生CNV（与GIGYF2、SPRY1、16p13.3、16p11.2、17p13.3-17p13.2、DMD和NAP1L6基因/位点重叠）。罕见的遗传CNVs影响其他可能的神经发育候选基因，包括GRID2、LINGO2和SLC39A12。在YWHAE上也发现了一个24kb的重复，这个基因以前与ASD和其他发育障碍有关。这种重复在病例和人群对照中以相似的频率观察到，可能是良性的亚洲特异性拷贝数多态性。我们的研究结果有助于确定汉族人与ASD相关的基因组特征，并强调在医学遗传解释中使用祖先匹配对照的重要性。
Autism spectrum disorders (ASDs) are a group of neurodevelopmental conditions with a demonstrated genetic etiology. Rare (<1% frequency) copy number variations (CNVs) account for a proportion of the genetic events involved, but the contribution of these events in non-European ASD populations has not been well studied. Here, we report on rare CNVs detected in a cohort of individuals with ASD of Han Chinese background. DNA samples were obtained from 104 ASD probands and their parents who were recruited from Harbin, China. Samples were genotyped on the Affymetrix CytoScan HD platform. Rare CNVs were identified by comparing data with 873 technology-matched controls from Ontario and 1,235 additional population controls of Han Chinese ethnicity. Of the probands, 8.6% had at least 1 de novo CNV (overlapping the GIGYF2, SPRY1, 16p13.3, 16p11.2, 17p13.3-17p13.2, DMD, and NAP1L6 genes/loci). Rare inherited CNVs affected other plausible neurodevelopmental candidate genes including GRID2, LINGO2, and SLC39A12. A 24-kb duplication was also identified at YWHAE, a gene previously implicated in ASD and other developmental disorders. This duplication is observed at a similar frequency in cases and in population controls and is likely a benign Asian-specific copy number polymorphism. Our findings help define genomic features relevant to ASD in the Han Chinese and emphasize the importance of using ancestry-matched controls in medical genetic interpretations.
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影响因子：
46.9
作者：
通讯作者：
--
DOI：
10.1016/j.jaac.2014.04.022
发表时间：
2014-08
影响因子：
13.3
作者：
McGrath, Lauren M.;Yu, Dongmei;Marshall, Christian;Davis, Lea K.;Thiruvahindrapuram, Bhooma;Li, Bingbin;Cappi, Carolina;Gerber, Gloria;Wolf, Aaron;Schroeder, Frederick A.;Osiecki, Lisa;O'Dushlaine, Colm;Kirby, Andrew;Illmann, Cornelia;Haddad, Stephen;Gallagher, Patience;Fagerness, Jesen A.;Barr, Cathy L.;Bellodi, Laura;Benarroch, Fortu;Bienvenu, O. Joseph;Black, Donald W.;Bloch, Michael H.;Bruun, Ruth D.;Budman, Cathy L.;Camarena, Beatriz;Cath, Danielle C.;Cavallini, Maria C.;Chouinard, Sylvain;Coric, Vladimir;Cullen, Bernadette;Delorme, Richard;Denys, Damiaan;Derks, Eske M.;Dion, Yves;Rosario, Maria C.;Eapen, Valsama;Evans, Patrick;Falkai, Peter;Fernandez, Thomas V.;Garrido, Helena;Geller, Daniel;Grabe, Hans J.;Grados, Marco A.;Greenberg, Benjamin D.;Gross-Tsur, Varda;Gruenblatt, Edna;Heiman, Gary A.;Hemmings, Sian M. J.;Herrera, Luis D.;Hounie, Ana G.;Jankovic, Joseph;Kennedy, James L.;King, Robert A.;Kurlan, Roger;Lanzagorta, Nuria;Leboyer, Marion;Leckman, James F.;Lennertz, Leonhard;Lochner, Christine;Lowe, Thomas L.;Lyon, Gholson J.;Macciardi, Fabio;Maier, Wolfgang;McCracken, James T.;McMahon, William;Murphy, Dennis L.;Naarden, Allan L.;Neale, Benjamin M.;Nurmi, Erika;Pakstis, Andrew J.;Pato, Michele T.;Pato, Carlos N.;Piacentini, John;Pittenger, Christopher;Pollak, Yehuda;Reus, Victor I.;Richter, Margaret A.;Riddle, Mark;Robertson, Mary M.;Rosenberg, David;Rouleau, Guy A.;Ruhrmann, Stephan;Sampaio, Aline S.;Samuels, Jack;Sandor, Paul;Sheppard, Brooke;Singer, Harvey S.;Smit, Jan H.;Stein, Dan J.;Tischrield, Jay A.;Vallada, Homero;Veenstra-VanderWeele, Jeremy;Walitza, Susanne;Wang, Ying;Wendfand, Jens R.;Shugart, Yin Yao;Miguel, Euripedes C.;Nicolini, Humberto;Oostra, Ben A.;Moessner, Rainald;Wagner, Michael;Ruiz-Linares, Andres;Heutink, Peter;Nestadt, Gerald;Freimer, Nelson;Petryshen, Tracey;Posthuma, Danielle;Jenike, Michael A.;Cox, Nancy J.;Hanna, Gregory L.;Brentani, Helena;Scherer, Stephen W.;Arnold, Paul D.;Stewart, S. Evelyn;Mathews, Carol A.;Knowles, James A.;Cook, Edwin H.;Pauls, David L.;Wang, Kai;Scharf, Jeremiah M.
通讯作者：
Scharf, Jeremiah M.
影响因子：
5.7
作者：
Stafford, Ryan L.;Hinde, Elizabeth;Knight, Mary Jane;Pennella, Mario A.;Ear, Jason;Digman, Michelle A.;Gratton, Enrico;Bowie, James U.
通讯作者：
Bowie, James U.
自闭症谱系障碍中基因和细胞途径的收敛性。
影响因子：
9.8
作者：
Pinto D;Delaby E;Merico D;Barbosa M;Merikangas A;Klei L;Thiruvahindrapuram B;Xu X;Ziman R;Wang Z;Vorstman JA;Thompson A;Regan R;Pilorge M;Pellecchia G;Pagnamenta AT;Oliveira B;Marshall CR;Magalhaes TR;Lowe JK;Howe JL;Griswold AJ;Gilbert J;Duketis E;Dombroski BA;De Jonge MV;Cuccaro M;Crawford EL;Correia CT;Conroy J;Conceição IC;Chiocchetti AG;Casey JP;Cai G;Cabrol C;Bolshakova N;Bacchelli E;Anney R;Gallinger S;Cotterchio M;Casey G;Zwaigenbaum L;Wittemeyer K;Wing K;Wallace S;van Engeland H;Tryfon A;Thomson S;Soorya L;Rogé B;Roberts W;Poustka F;Mouga S;Minshew N;McInnes LA;McGrew SG;Lord C;Leboyer M;Le Couteur AS;Kolevzon A;Jiménez González P;Jacob S;Holt R;Guter S;Green J;Green A;Gillberg C;Fernandez BA;Duque F;Delorme R;Dawson G;Chaste P;Café C;Brennan S;Bourgeron T;Bolton PF;Bölte S;Bernier R;Baird G;Bailey AJ;Anagnostou E;Almeida J;Wijsman EM;Vieland VJ;Vicente AM;Schellenberg GD;Pericak-Vance M;Paterson AD;Parr JR;Oliveira G;Nurnberger JI;Monaco AP;Maestrini E;Klauck SM;Hakonarson H;Haines JL;Geschwind DH;Freitag CM;Folstein SE;Ennis S;Coon H;Battaglia A;Szatmari P;Sutcliffe JS;Hallmayer J;Gill M;Cook EH;Buxbaum JD;Devlin B;Gallagher L;Betancur C;Scherer SW
通讯作者：
Scherer SW
影响因子：
6.2
作者：
Sun X;Allison C;Matthews FE;Sharp SJ;Auyeung B;Baron-Cohen S;Brayne C
通讯作者：
Brayne C