An updated catalog of CTCF variants associated with neurodevelopmental disorder phenotypes.
An updated catalog of CTCF variants associated with neurodevelopmental disorder phenotypes.
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DOI：
10.3389/fnmol.2023.1185796
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发表时间：
2023
影响因子：
4.8
通讯作者：
Lobanenkov, Victor V.
中科院分区：
文献类型：
--
作者：
Price, Emma;Fedida, Liron M.;Pugacheva, Elena M.;Ji, Yon J.;Loukinov, Dmitri;Lobanenkov, Victor V.
关键词：
CTCF相关疾病（CRD）是由CTCF中的单等位基因致病性变体引起的神经发育障碍（NDD）。CRD病例中的第一个CTCF变体于2013年记录。迄今为止，文献中已进一步描述了76种CTCF变体。近年来，由于下一代测序（NGS）的应用增加，越来越多的CTCF变体被鉴定，并且编目这些变体的多个基因型-表型数据库正在出现。在这项研究中，我们的目的是扩大CRD的基因型谱，通过编目与报告的CTCF变异相关的NDD表型。在这里，我们系统地回顾了病例研究和大规模外显子组测序队列中报告的所有已知CTCF变体。我们还使用来自基因型-表型数据库的公共变体数据进行了荟萃分析，以确定其他CTCF变体，然后我们对其进行了策划和注释。从这种结合的方法，我们报告了一个额外的86 CTCF变异与NDD表型尚未在文献中描述。此外，我们描述并解释了报告变异体质量的不一致性，这损害了NDD和其他病理研究数据的重复使用。从这个综合分析，我们提供了一个全面的和注释的目录，所有目前已知的CTCF突变与NDD表型，以帮助诊断应用，以及翻译和基础研究。
CTCF-related disorder (CRD) is a neurodevelopmental disorder (NDD) caused by monoallelic pathogenic variants in CTCF. The first CTCF variants in CRD cases were documented in 2013. To date, 76 CTCF variants have been further described in the literature. In recent years, due to the increased application of next-generation sequencing (NGS), growing numbers of CTCF variants are being identified, and multiple genotype-phenotype databases cataloging such variants are emerging. In this study, we aimed to expand the genotypic spectrum of CRD, by cataloging NDD phenotypes associated with reported CTCF variants. Here, we systematically reviewed all known CTCF variants reported in case studies and large-scale exome sequencing cohorts. We also conducted a meta-analysis using public variant data from genotype-phenotype databases to identify additional CTCF variants, which we then curated and annotated. From this combined approach, we report an additional 86 CTCF variants associated with NDD phenotypes that have not yet been described in the literature. Furthermore, we describe and explain inconsistencies in the quality of reported variants, which impairs the reuse of data for research of NDDs and other pathologies. From this integrated analysis, we provide a comprehensive and annotated catalog of all currently known CTCF mutations associated with NDD phenotypes, to aid diagnostic applications, as well as translational and basic research.
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影响因子：
64.5
作者：
Davoli T;Xu AW;Mengwasser KE;Sack LM;Yoon JC;Park PJ;Elledge SJ
通讯作者：
Elledge SJ
影响因子：
30.8
作者：
Chakraborty, Shreeta;Kopitchinski, Nina;Rocha, Pedro P.
通讯作者：
Rocha, Pedro P.
影响因子：
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作者：
Corpas M;Kovalevskaya NV;McMurray A;Nielsen FGG
通讯作者：
Nielsen FGG
影响因子：
3.6
作者：
Davis L;Rayi PR;Getselter D;Kaphzan H;Elliott E
通讯作者：
Elliott E
影响因子：
64.5
作者：
Collins, Ryan L.;Glessner, Joseph T.;Porcu, Eleonora;Lepamets, Maarja;Brandon, Rhonda;Lauricella, Christopher;Han, Lide;Morley, Theodore;Niestroj, Lisa-Marie;Ulirsch, Jacob;Everett, Selin;Howrigan, Daniel P.;Boone, Philip M.;Fu, Jack;Karczewski, Konrad J.;Kellaris, Georgios;Lowther, Chelsea;Lucente, Diane;Mohajeri, Kiana;Noukas, Margit;Nuttle, Xander;Samocha, Kaitlin E.;Trinh, Mi;Ullah, Farid;Vosa, Urmo;Hurles, Matthew E.;Aradhya, Swaroop;Davis, Erica E.;Finucane, Hilary;Gusella, James F.;Janze, Aura;Katsanis, Nicholas;Matyakhina, Ludmila;Neale, Benjamin M.;Sanders, David;Warren, Stephanie;Hodge, Jennelle C.;Lal, Dennis;Ruderfer, Douglas M.;Meck, Jeanne;Magi, Reedik;Esko, Tonu;Reymond, Alexandre;Kutalik, Zoltan;Hakonarson, Hakon;Sunyaev, Shamil;Brand, Harrison;Talkowski, Michael E.
通讯作者：
Talkowski, Michael E.