Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature
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Published:2023-01
Issue:1
Volume:25
Page:49-62
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ISSN:1098-3600
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Container-title:Genetics in Medicine
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language:en
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Short-container-title:Genetics in Medicine
Author:
van Jaarsveld Richard H.ORCID, Reilly Jack, Cornips Marie-Claire, Hadders Michael A., Agolini Emanuele, Ahimaz Priyanka, Anyane-Yeboa Kwame, Bellanger Severine Audebert, van Binsbergen Ellen, van den Boogaard Marie-Jose, Brischoux-Boucher Elise, Caylor Raymond C., Ciolfi Andrea, van Essen Ton A.J., Fontana Paolo, Hopman Saskia, Iascone Maria, Javier Margaret M., Kamsteeg Erik-Jan, Kerkhof Jennifer, Kido Jun, Kim Hyung-Goo, Kleefstra Tjitske, Lonardo Fortunato, Lai Abbe, Lev Dorit, Levy Michael A., Lewis M.E. Suzanne, Lichty Angie, Mannens Marcel M.A.M., Matsumoto Naomichi, Maya Idit, McConkey Haley, Megarbane Andre, Michaud Vincent, Miele Evelina, Niceta Marcello, Novelli Antonio, Onesimo Roberta, Pfundt Rolph, Popp Bernt, Prijoles Eloise, Relator Raissa, Redon Sylvia, Rots Dmitrijs, Rouault Karen, Saida Ken, Schieving Jolanda, Tartaglia Marco, Tenconi Romano, Uguen Kevin, Verbeek Nienke, Walsh Christopher A., Yosovich Keren, Yuskaitis Christopher J., Zampino Giuseppe, Sadikovic Bekim, Alders Mariëlle, Oegema Renske
Subject
Genetics (clinical)
Reference49 articles.
1. Fahrner JA, Bjornsson HT. Mendelian disorders of the epigenetic machinery: postnatal malleability and therapeutic prospects. Hum Mol Genet. 2019;28(R2):R254-R264. Published correction appears in Hum Mol Genet. 2020;29(5):876. https://doi.org/10.1093/hmg/ddz174 2. Aref-Eshghi E, Kerkhof J, Pedro VP, et al. Evaluation of DNA methylation episignatures for diagnosis and phenotype correlations in 42 Mendelian neurodevelopmental disorders. Am J Hum Genet. 2020;106(3):356-370. Published correction appearance in Am J Hum Genet. 2021;108(6):1161-1163. https://doi.org/10.1016/j.ajhg.2020.01.019 3. Sadikovic B, Levy MA, Kerkhof J, et al. Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders. Genet Med. 2021;23(6):1065-1074. Published correction appears in Genet Med. 2021;23(11):2228. https://doi.org/10.1038/s41436-020-01096-4 4. Histone demethylation by a family of JmjC domain-containing proteins;Tsukada;Nature,2006 5. KDM2b/JHDM1b, an H3K36me2-specific demethylase, is required for initiation and maintenance of acute myeloid leukemia;He;Blood,2011
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