Article
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
American journal of human genetics - 2 Jul 2020
Vissers Lisenka E L M, Kalvakuri Sreehari, de Boer Elke, Geuer Sinje, Oud Machteld, van Outersterp Inge, Kwint Michael, Witmond Melde, Kersten Simone, Polla Daniel L, Weijers Dilys, Begtrup Amber, McWalter Kirsty, Ruiz Anna, Gabau Elisabeth, Morton Jenny E V, Griffith Christopher, Weiss Karin, Gamble Candace, Bartley James, Vernon Hilary J, Brunet Kendra, Ruivenkamp Claudia, Kant Sarina G, Kruszka Paul, Larson Austin, Afenjar Alexandra, Billette de Villemeur Thierry, Nugent Kimberly, Raymond F Lucy, Venselaar Hanka, Demurger Florence, Soler-Alfonso Claudia, Li Dong, Bhoj Elizabeth, Hayes Ian, Hamilton Nina Powell, Ahmad Ayesha, Fisher Rachel, van den Born Myrthe, Willems Marjolaine, Sorlin Arthur, Delanne Julian, Moutton Sebastien, Christophe Philippe, Mau-Them Frederic Tran, Vitobello Antonio, Goel Himanshu, Massingham Lauren, Phornphutkul Chanika, Schwab Jennifer, Keren Boris, Charles Perrine, Vreeburg Maaike, De Simone Lenika, Hoganson George, Iascone Maria, Milani Donatella, Evenepoel Lucie, Revencu Nicole, Ward D Isum, Burns Kaitlyn, Krantz Ian, Raible Sarah E, Murrell Jill R, Wood Kathleen, Cho Megan T, van Bokhoven Hans, Muenke Maximilian, Kleefstra Tjitske, Bodmer Rolf, de Brouwer Arjan P M
Abstract excerpt
CNOT1 is a member of the CCR4-NOT complex, which is a master regulator, orchestrating gene expression, RNA deadenylation, and protein ubiquitination. We report on 39 individuals with heterozygous de novo CNOT1 variants, including missense, splice site, and nonsense variants, who present with a clinical spectrum of intellectual disability, motor delay, speech delay, seizures, hypotonia, and behavioral problems. To...
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