Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder
Marije Meuwissen,Aline Verstraeten,Emmanuelle Ranza,Justyna Iwaszkiewicz,Maaike Bastiaansen,Ligia Mateiu,Merlijn Nemegeer,Josephina A N Meester,Alexandra Afenjar,Michelle Amaral,Diana Ballhausen,Sarah Barnett,Magalie Barth,Bob Asselbergh, Katrien Spaas,Bavo Heeman,Jennifer Bassetti,Patrick Blackburn,Marie Schaer,Xavier Blanc,Vincent Zoete,Kari Casas,Thomas Courtin,Diane Doummar,Frédéric Guerry,Boris Keren,John Pappas,Rachel Rabin,Amber Begtrup,Marwan Shinawi,Anneke T Vulto-van Silfhout,Tjitske Kleefstra,Matias Wagner,Alban Ziegler,Elise Schaefer,Benedicte Gerard,Charlotte I De Bie,Sjoerd J B Holwerda,Mary Alice Abbot,Stylianos E Antonarakis,Bart Loeys Genetics in Medicine（2022）
摘要
We describe a neurodevelopmental disorder caused by (mainly) de novo variants in CTR9, likely affecting PAF1C function.
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关键词
Autism spectrum disorder,CTR9,Intellectual disability,Neurodevelopmental disorder,PAF1C
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