An updated catalog of CTCF variants associated with neurodevelopmental disorder phenotypes
IntroductionCTCF-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 increas...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-05-01
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| Series: | Frontiers in Molecular Neuroscience |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fnmol.2023.1185796/full |
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| author | Emma Price Liron M. Fedida Elena M. Pugacheva Yon J. Ji Dmitri Loukinov Victor V. Lobanenkov |
| author_facet | Emma Price Liron M. Fedida Elena M. Pugacheva Yon J. Ji Dmitri Loukinov Victor V. Lobanenkov |
| author_sort | Emma Price |
| collection | DOAJ |
| description | IntroductionCTCF-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.MethodsIn 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.ResultsFrom 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.DiscussionFrom 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. |
| first_indexed | 2024-03-13T08:23:53Z |
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| institution | Directory Open Access Journal |
| issn | 1662-5099 |
| language | English |
| last_indexed | 2024-03-13T08:23:53Z |
| publishDate | 2023-05-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Molecular Neuroscience |
| spelling | doaj.art-824711df00be4707b31274bf5f351af92023-05-31T05:00:02ZengFrontiers Media S.A.Frontiers in Molecular Neuroscience1662-50992023-05-011610.3389/fnmol.2023.11857961185796An updated catalog of CTCF variants associated with neurodevelopmental disorder phenotypesEmma PriceLiron M. FedidaElena M. PugachevaYon J. JiDmitri LoukinovVictor V. LobanenkovIntroductionCTCF-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.MethodsIn 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.ResultsFrom 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.DiscussionFrom 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.https://www.frontiersin.org/articles/10.3389/fnmol.2023.1185796/fullCTCFvariantnext-generation sequencing (NGS)mutationneurodevelopmental disordersgenotype-phenotype |
| spellingShingle | Emma Price Liron M. Fedida Elena M. Pugacheva Yon J. Ji Dmitri Loukinov Victor V. Lobanenkov An updated catalog of CTCF variants associated with neurodevelopmental disorder phenotypes Frontiers in Molecular Neuroscience CTCF variant next-generation sequencing (NGS) mutation neurodevelopmental disorders genotype-phenotype |
| title | An updated catalog of CTCF variants associated with neurodevelopmental disorder phenotypes |
| title_full | An updated catalog of CTCF variants associated with neurodevelopmental disorder phenotypes |
| title_fullStr | An updated catalog of CTCF variants associated with neurodevelopmental disorder phenotypes |
| title_full_unstemmed | An updated catalog of CTCF variants associated with neurodevelopmental disorder phenotypes |
| title_short | An updated catalog of CTCF variants associated with neurodevelopmental disorder phenotypes |
| title_sort | updated catalog of ctcf variants associated with neurodevelopmental disorder phenotypes |
| topic | CTCF variant next-generation sequencing (NGS) mutation neurodevelopmental disorders genotype-phenotype |
| url | https://www.frontiersin.org/articles/10.3389/fnmol.2023.1185796/full |
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