Duplication 16p11.2 in a child with infantile seizure disorder.
Duplication 16p11.2 in a child with infantile seizure disorder.
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DOI：
10.1002/ajmg.a.33415
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发表时间：
2010-06
影响因子：
2
通讯作者：
Martin, Donna M.
中科院分区：
文献类型：
--
作者：
Bedoyan, Jirair K.;Kumar, Ravinesh A.;Sudi, Jyotsna;Silverstein, Faye;Ackley, Todd;Iyer, Ramaswamy K.;Christian, Susan L.;Martin, Donna M.
亚显微镜下复发性16p11.2重排与多种神经发育障碍有关，包括自闭症、智力迟钝和精神分裂症。常见的16p11.2区域包括24个已知基因，其中22个在发育中的人类胎儿神经系统中表达。到目前为止，导致神经发育异常的机制以及与16p11.2缺失或重复相关的更广泛的表型尚未明确。在这里，我们报告了一个患有痉挛性四肢瘫，难固性婴儿癫痫发作，严重的整体发育迟缓，张力低下和小头畸形的儿童，以及一个新的598 Kb 16p11.2微重复。家族史在父母和直系亲属中均为阴性。测序分析显示DOC2A、QPRT和SEZ6L2没有突变，这些基因位于重复的16p11.2区域，与神经元功能和/或癫痫相关表型有关。该患儿的临床病程与一种罕见的癫痫发作相一致，称为婴儿期恶性迁移性部分癫痫发作，这增加了16p11.2区间基因复制或破坏可能导致这种严重疾病的可能性。
Submicroscopic recurrent 16p11.2 rearrangements are associated with several neurodevelopmental disorders, including autism, mental retardation, and schizophrenia. The common 16p11.2 region includes 24 known genes, of which 22 are expressed in the developing human fetal nervous system. As yet, the mechanisms leading to neurodevelopmental abnormalities and the broader phenotypes associated with deletion or duplication of 16p11.2 have not been clarified. Here we report a child with spastic quadriparesis, refractory infantile seizures, severe global developmental delay, hypotonia, and microcephaly, and a de novo 598 Kb 16p11.2 microduplication. Family history is negative for any of these features in parents and immediate family members. Sequencing analyses showed no mutations in DOC2A, QPRT, and SEZ6L2, genes within the duplicated 16p11.2 region that have been implicated in neuronal function and/or seizure related phenotypes. The child’s clinical course is consistent with a rare seizure disorder called malignant migrating partial seizure disorder of infancy, raising the possibility that duplication or disruption of genes in the 16p11.2 interval may contribute to this severe disorder.
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影响因子：
1.7
作者：
Coppola, G;Veggiotti, P;Pascotto, A
通讯作者：
Pascotto, A
影响因子：
4.7
作者：
Groffen, AJA;Friedrich, R;Verhage, M
通讯作者：
Verhage, M
DOI：
10.1006/bbrc.1995.1062
发表时间：
1995-01-17
影响因子：
3.1
作者：
ORITA, S;SASAKI, T;TAKAI, Y
通讯作者：
TAKAI, Y
影响因子：
30.8
作者：
McCarthy, Shane E.;Makarov, Vladimir;Kirov, George;Addington, Anjene M.;McClellan, Jon;Yoon, Seungtai;Perkins, Diana O.;Dickel, Diane E.;Kusenda, Mary;Krastoshevsky, Olga;Krause, Verena;Kumar, Ravinesh A.;Grozeva, Detelina;Malhotra, Dheeraj;Walsh, Tom;Zackai, Elaine H.;Kaplan, Paige;Ganesh, Jaya;Krantz, Ian D.;Spinner, Nancy B.;Roccanova, Patricia;Bhandari, Abhishek;Pavon, Kevin;Lakshmi, B.;Leotta, Anthony;Kendall, Jude;Lee, Yoon-ha;Vacic, Vladimir;Gary, Sydney;Iakoucheva, Lilia M.;Crow, Timothy J.;Christian, Susan L.;Lieberman, Jeffrey A.;Stroup, T. Scott;Lehtimaki, Terho;Puura, Kaija;Haldeman-Englert, Chad;Pearl, Justin;Goodell, Meredith;Willour, Virginia L.;DeRosse, Pamela;Steele, Jo;Kassem, Layla;Wolff, Jessica;Chitkara, Nisha;McMahon, Francis J.;Malhotra, Anil K.;Potash, James B.;Schulze, Thomas G.;Noethen, Markus M.;Cichon, Sven;Rietschel, Marcella;Leibenluft, Ellen;Kustanovich, Vlad;Lajonchere, Clara M.;Sutcliffe, James S.;Skuse, David;Gill, Michael;Gallagher, Louise;Mendell, Nancy R.;Craddock, Nick;Owen, Michael J.;O'Donovan, Michael C.;Shaikh, Tamim H.;Susser, Ezra;DeLisi, Lynn E.;Sullivan, Patrick F.;Deutsch, Curtis K.;Rapoport, Judith;Levy, Deborah L.;King, Mary-Claire;Sebat, Jonathan
通讯作者：
Sebat, Jonathan
影响因子：
158.5
作者：
Weiss, Lauren A.;Shen, Yiping;Daly, Mark J.
通讯作者：
Daly, Mark J.