Article
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD.
Journal of medical genetics - 1 Oct 2020
Granadillo Jorge Luis, P A Stegmann Alexander, Guo Hui, Xia Kun, Angle Brad, Bontempo Kelly, Ranells Judith D, Newkirk Patricia, Costin Carrie, Viront Joleen, Stumpel Constanze T, Sinnema Margje, Panis Bianca, Pfundt Rolph, Krapels Ingrid P C, Klaassens Merel, Nicolai Joost, Li Jinliang, Jiang Yuwu, Marco Elysa, Canton Ana, Latronico Ana Claudia, Montenegro Luciana, Leheup Bruno, Bonnet Celine, M Amudhavalli Shivarajan, Lawson Caitlin E, McWalter Kirsty, Telegrafi Aida, Pearson Richard, Kvarnung Malin, Wang Xia, Bi Weimin, Rosenfeld Jill Anne, Shinawi Marwan
Abstract excerpt
BACKGROUND: Rare variants in hundreds of genes have been implicated in developmental delay (DD), intellectual disability (ID) and neurobehavioural phenotypes. TNRC6B encodes a protein important for RNA silencing. Heterozygous truncating variants have been reported in three patients from large cohorts with autism, but no full phenotypic characterisation was described. METHODS: Clinical and molecular...
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