A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.
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DOI：
10.1038/ng.2899
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发表时间：
2014-04
期刊：
影响因子：
30.8
通讯作者：
Van der Aa, Nathalie
中科院分区：
文献类型：
--
作者：
Helsmoortel, Celine;Vulto-van Silfhout, Anneke T.;Coe, Bradley P.;Vandeweyer, Geert;Rooms, Liesbeth;van den Ende, Jenneke;Schuurs-Hoeijmakers, Janneke H. M.;Marcelis, Carlo L.;Willemsen, Marjolein H.;Vissers, Lisenka E. L. M.;Yntema, Helger G.;Bakshi, Madhura;Wilson, Meredith;Witherspoon, Kali T.;Malmgren, Helena;Nordgren, Ann;Anneren, Goran;Fichera, Marco;Bosco, Paolo;Romano, Corrado;de Vries, Bert B. A.;Kleefstra, Tjitske;Kooy, R. Frank;Eichler, Evan E.;Van der Aa, Nathalie
尽管遗传可能性很高，但只能在少数自闭症谱系障碍（ASD）患者中建立基因诊断，其特征是社会沟通和互动的持续缺陷以及行为，兴趣或活动的限制性重复模式。已知的遗传原因包括染色体畸变，如15 q11 -13区域的重复，以及单基因原因，如Rett和脆性X综合征。ASD中的遗传异质性是惊人的，即使是最常见的原因也最多只占1%的病例。即使随着下一代测序的最新发展，对于大多数病例，也不能建立分子诊断。在这里，我们报告了10例ASD患者和其他共同的临床特征，包括智力残疾和面部畸形引起的突变ADNP，转录因子参与SWI/SNF重塑复合物。我们估计该基因在至少0.17%的ASD病例中发生突变，使其成为迄今为止已知的最常见的ASD基因之一。
Despite a high heritability, a genetic diagnosis can only be established in a minority of patients with autism spectrum disorder (ASD), characterized by persistent deficits in social communication and interaction and restricted, repetitive patterns of behavior, interests or activities. Known genetic causes include chromosomal aberrations, such as the duplication of the 15q11-13 region, and monogenic causes, such as the Rett and Fragile X syndromes. The genetic heterogeneity within ASD is striking, with even the most frequent causes responsible for only 1% of cases at the most. Even with the recent developments in next generation sequencing, for the large majority of cases no molecular diagnosis can be established . Here, we report 10 patients with ASD and other shared clinical characteristics, including intellectual disability and facial dysmorphisms caused by a mutation in ADNP, a transcription factor involved in the SWI/SNF remodeling complex. We estimate this gene to be mutated in at least 0.17% of ASD cases, making it one of the most frequent ASD genes known to date.
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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：
10.1038/nrm3454
发表时间：
2012-11
期刊：
Nature reviews. Molecular cell biology
影响因子：
--
作者：
通讯作者：
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影响因子：
4.7
作者：
Bassan, M;Zamostiano, R;Gozes, I
通讯作者：
Gozes, I
影响因子：
3.7
作者：
Choi, EY;Park, JA;Kwon, H
通讯作者：
Kwon, H
RTPRIMERDB：实时PCR引物和探针的门户。
影响因子：
14.9
作者：
Lefever S;Vandesompele J;Speleman F;Pattyn F
通讯作者：
Pattyn F