Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder

CTR9 is a subunit of the PAF1 complex (PAF1C) that plays a crucial role in transcription regulation by binding CTR9 to RNA polymerase II. It is involved in transcription-coupled histone modification through promoting H3K4 and H3K36 methylation. We describe the clinical and molecular studies in 13 pr...

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Veröffentlicht in:	Genetics in medicine 2022-07, Vol.24 (7), p.1583-1591
Hauptverfasser:	Meuwissen, Marije, Verstraeten, Aline, Ranza, Emmanuelle, Iwaszkiewicz, Justyna, Bastiaansen, Maaike, Mateiu, Ligia, Nemegeer, Merlijn, Meester, Josephina A.N., Afenjar, Alexandra, Amaral, Michelle, Ballhausen, Diana, Barnett, Sarah, Barth, Magalie, Asselbergh, Bob, Spaas, Katrien, Heeman, Bavo, Bassetti, Jennifer, Blackburn, Patrick, Schaer, Marie, Blanc, Xavier, Zoete, Vincent, Casas, Kari, Courtin, Thomas, Doummar, Diane, Guerry, Frédéric, Keren, Boris, Pappas, John, Rabin, Rachel, Begtrup, Amber, Shinawi, Marwan, Vulto-van Silfhout, Anneke T., Kleefstra, Tjitske, Wagner, Matias, Ziegler, Alban, Schaefer, Elise, Gerard, Benedicte, De Bie, Charlotte I., Holwerda, Sjoerd J.B., Abbot, Mary Alice, Antonarakis, Stylianos E., Loeys, Bart
Format:	Artikel
Sprache:	eng
Schlagworte:	Autism spectrum disorder CTR9 Intellectual disability Neurodevelopmental disorder PAF1C
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