Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
复制标题
DOI：
10.1038/ng.3092
复制
发表时间：
2014-10
期刊：
影响因子：
30.8
通讯作者：
Eichler, Evan E.
中科院分区：
文献类型：
--
作者：
Coe, Bradley P.;Witherspoon, Kali;Rosenfeld, Jill A.;van Bon, Bregje W. M.;Vulto-van Silfhout, Anneke T.;Bosco, Paolo;Friend, Kathryn L.;Baker, Carl;Buono, Serafino;Vissers, Lisenka E. L. M.;Schuurs-Hoeijmakers, Janneke H.;Hoischen, Alex;Pfundt, Rolph;Krumm, Nik;Carvill, Gemma L.;Li, Deana;Amaral, David;Brown, Natasha;Lockhart, Paul J.;Scheffer, Ingrid E.;Alberti, Antonino;Shaw, Marie;Pettinato, Rosa;Tervo, Raymond;de Leeuw, Nicole;Reijnders, Margot R. F.;Torchia, Beth S.;Peeters, Hilde;O'Roak, Brian J.;Fichera, Marco;Hehir-Kwa, Jayne Y.;Shendure, Jay;Mefford, Heather C.;Haan, Eric;Gecz, Jozef;de Vries, Bert B. A.;Romano, Corrado;Eichler, Evan E.
Copy number variants (CNVs) are associated with many neurocognitive disorders; however, these events are typically large and the underlying causative gene is unclear. We created an expanded CNV morbidity map from 29,085 children with developmental delay versus 19,584 healthy controls, identifying 70 significant CNVs. We resequenced 26 candidate genes in 4,716 additional cases with developmental delay or autism and 2,193 controls. An integrated analysis of CNV and single-nucleotide variant (SNV) data pinpointed ten genes enriched for putative loss of function. Patient follow-up on a subset identified new clinical subtypes of pediatric disease and the genes responsible for disease-associated CNVs. This includes haploinsufficiency of SETBP1 associated with intellectual disability and loss of expressive language and truncations of ZMYND11 in patients with autism, aggression and complex neuropsychiatric features. This combined CNV and SNV approach facilitates the rapid discovery of new syndromes and neuropsychiatric disease genes despite extensive genetic heterogeneity.
登录
查看更多内容
影响因子：
16.2
作者：
Iossifov I;Ronemus M;Levy D;Wang Z;Hakker I;Rosenbaum J;Yamrom B;Lee YH;Narzisi G;Leotta A;Kendall J;Grabowska E;Ma B;Marks S;Rodgers L;Stepansky A;Troge J;Andrews P;Bekritsky M;Pradhan K;Ghiban E;Kramer M;Parla J;Demeter R;Fulton LL;Fulton RS;Magrini VJ;Ye K;Darnell JC;Darnell RB;Mardis ER;Wilson RK;Schatz MC;McCombie WR;Wigler M
通讯作者：
Wigler M
DOI：
10.1002/ajmg.b.31063
发表时间：
2010-06-05
影响因子：
2.8
作者：
Ching, Michael S. L.;Shen, Yiping;Tan, Wen-Hann;Jeste, Shafali S.;Morrow, Eric M.;Chen, Xiaoli;Mukaddes, Nahit M.;Yoo, Seung-Yun;Hanson, Ellen;Hundley, Rachel;Austin, Christina;Becker, Ronald E.;Berry, Gerard T.;Driscoll, Katherine;Engle, Elizabeth C.;Friedman, Sandra;Gusella, James F.;Hisama, Fuki M.;Irons, Mira B.;Lafiosca, Tina;LeClair, Elaine;Miller, David T.;Neessen, Michael;Picker, Jonathan D.;Rappaport, Leonard;Rooney, Cynthia M.;Sarco, Dean P.;Stoler, Joan M.;Walsh, Christopher A.;Wolff, Robert R.;Zhang, Ting;Nasir, Ramzi H.;Wu, Bai-Lin
通讯作者：
Wu, Bai-Lin
影响因子：
5.2
作者：
Doecker, Dennis;Schubach, Max;Bartholdi, Deborah
通讯作者：
Bartholdi, Deborah
影响因子：
4
作者：
Hehir-Kwa, Jayne Y.;Rodriguez-Santiago, Benjamin;Veltman, Joris A.
通讯作者：
Veltman, Joris A.
影响因子：
30.8
作者：
Hoischen, Alexander;van Bon, Bregje W. M.;Veltman, Joris A.
通讯作者：
Veltman, Joris A.