Wilfert AB, Sulovari A, Turner TN, Coe BP, Eichler EE. Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications. Genome Med. 2017;9:101.
Article PubMed PubMed Central Google Scholar
Lin Y, Afshar S, Rajadhyaksha AM, Potash JB, Han S. A Machine Learning Approach to Predicting Autism Risk Genes: Validation of Known Genes and Discovery of New Candidates. Front Genet. 2020;11:500064.
Article PubMed PubMed Central CAS Google Scholar
Huang S, Xu J, Li Y, Mo W, Lin X, Wang Y, et al. A syndrome featuring developmental disorder of the nervous system induced by a novel mutation in the TCF20 gene, rarely concurrent immune disorders: a case report. Front Genet. 2023;14:1192668.
Article PubMed PubMed Central Google Scholar
Satterstrom FK, Kosmicki JA, Wang J, Breen MS, De Rubeis S, An JY, et al. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell. 2020;180:568–584.e23.
Article PubMed PubMed Central CAS Google Scholar
Shen EH, Overly CC, Jones AR. The Allen Human Brain Atlas. Trends in Neurosciences. 2012;35:1–92. https://doi.org/10.1016/j.tins.2012.09.005
Mitz AR, Philyaw TJ, Boccuto L, Shcheglovitov A, Sarasua SM, Kaufmann WE, et al. Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome. European Journal of Human Genetics. 2018;26:293–302.
Article PubMed PubMed Central CAS Google Scholar
Carithers LJ, Moore HM. The Genotype-Tissue Expression (GTEx) Project. Biopreservation and Biobanking. 2015;13:307–8.
Article PubMed PubMed Central Google Scholar
Adams MS, Gammill LS, Bronner-Fraser M. Discovery of transcription factors and other candidate regulators of neural crest development. Developmental Dynamics. 2008;237:1021–33.
Article PubMed PubMed Central CAS Google Scholar
Lein ES, Hawrylycz MJ, Ao N, Ayres M, Bensinger A, Bernard A, et al. Genome-wide atlas of gene expression in the adult mouse brain. Nature. 2007;445:168–76.
Article PubMed CAS Google Scholar
Sanz L, Moscat J, Diaz-Meco MT. Molecular characterization of a novel transcription factor that controls stromelysin expression. Molecular and cellular biology. 1995;15:3164–70.
Article PubMed PubMed Central CAS Google Scholar
Rekdal C, Sjøttem E, Johansen T. The Nuclear Factor SPBP Contains Different Functional Domains and Stimulates the Activity of Various Transcriptional Activators. Journal of Biological Chemistry. 2000;275:40288–300.
Article PubMed CAS Google Scholar
Gburcik V, Bot N, Maggiolini M, Picard D. SPBP is a phosphoserine-specific repressor of estrogen receptor alpha. Molecular and cellular biology. 2005;25:3421–30.
Article PubMed PubMed Central CAS Google Scholar
Feng C, Zhao J, Ji F, Su L, Chen Y, Jiao J. TCF20 dysfunction leads to cortical neurogenesis defects and autistic-like behaviors in mice. EMBO Rep. 2020;21:e49239.
Article PubMed PubMed Central CAS Google Scholar
Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, et al. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Medicine. 2019;11:12.
Article PubMed PubMed Central Google Scholar
Darvekar S, Rekdal C, Johansen T, Sjøttem E. A phylogenetic study of SPBP and RAI1: evolutionary conservation of chromatin binding modules. PLoS One. 2013;8:e78907.
Article PubMed PubMed Central CAS Google Scholar
Babbs C, Lloyd D, Pagnamenta AT, Twigg SR, Green J, McGowan SJ, et al. De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder. Journal of Medical Genetics. 2014;51:737–47.
Article PubMed CAS Google Scholar
Schäfgen J, Cremer K, Becker J, Wieland T, Zink AM, Kim S, et al. De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth. European Journal of Human Genetics. 2016;24:1739–45.
Article PubMed PubMed Central Google Scholar
Kurtas N, Arrigoni F, Errichiello E, Zucca C, Maghini C, D'Angelo MG, et al. Chromothripsis and ring chromosome 22: A paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome). Journal of Medical Genetics. 2018;55:269–77.
Article PubMed CAS Google Scholar
Upadia J, Gonzales PR, Atkinson TP, Schroeder HW, Robin NH, Rudy NL, et al. A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C. American Journal of Medical Genetics, Part A. 2018;176:2791–7.
Article PubMed CAS Google Scholar
Lévy J, Cogan G, Maruani A, Maillard A, Dupont C, Drunat S, et al. Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder. Clinical Genetics. 2022;101:364–70. https://doi.org/10.1111/cge.14099
Article PubMed CAS Google Scholar
Schneeweiss, MR, Dale, B & Ejaz, R Diagnosis and clinical presentation of two individuals with a rare TCF20 pathogenic variant. BMJ Case Reports (2022), 15 https://doi.org/10.1136/bcr-2022-248995.
Svorenova T, Romito LM, Colangelo I, Han V, Jech R, Prokisch H, et al. Dystonia as a prominent feature of TCF20-associated neurodevelopmental disorder: Expanding the phenotype. Parkinsonism Relat Disord. 2022;102:89–91.
Córdoba-Jover B, Ribera J, Portolés I, Lecue E, Rodriguez-Vita J, Pérez-Sisqués L, et al. Tcf20 deficiency is associated with increased liver fibrogenesis and alterations in mitochondrial metabolism in mice and humans. Liver Int. 2023;43:1822–36.
Lelieveld SH, Reijnders MR, Pfundt R, Yntema HG, Kamsteeg EJ, de Vries P, et al. Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. Nature Neuroscience. 2016;19:1194–6.
Article PubMed CAS Google Scholar
McRae JF, et al. Prevalence and architecture of de novo mutations in developmental disorders. Nature. 2017;542:433–8. https://doi.org/10.1038/nature21062
Torti E, Keren B, Palmer EE, Zhu Z, Afenjar A, Anderson IJ, et al. Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature. Genetics in Medicine. 2019;21:2036–42. https://doi.org/10.1038/s41436-019-0454-9
Article PubMed PubMed Central Google Scholar
Lift Genome Annotations. https://genome.ucsc.edu/cgi-bin/hgLiftOver.
Thorvaldsdóttir H, Robinson JT, Mesirov JP. Integrative Genomics Viewer (IGV): High-performance genomics data visualization and exploration. Briefings in Bioinformatics. 2013;14:178–92.
Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016;536:285–91.
Article PubMed PubMed Central CAS Google Scholar
McLaren W, Gil L, Hunt SE, Riat HS, Ritchie GR, Thormann A, et al. The Ensembl Variant Effect Predictor. Genome Biology. 2016;17:122.
Article PubMed PubMed Central Google Scholar
Samocha KE, Robinson EB, Sanders SJ, Stevens C, Sabo A, McGrath LM, et al. A framework for the interpretation of de novo mutation in human disease. Nature Genetics. 2014;46:944–50.
Comments (0)