Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD.
Jorge Luis GranadilloAlexander P A StegmannHui GuoKun XiaBrad AngleKelly BontempoJudith D RanellsPatricia NewkirkCarrie CostinJoleen VirontConstanze T StumpelMargje SinnemaBianca PanisRolph PfundtIngrid P C KrapelsMerel KlaassensJoost NicolaiJinliang LiYuwu JiangElysa MarcoAna CantonAna Claudia LatronicoLuciana MontenegroBruno LeheupCeline BonnetShivarajan M AmudhavalliCaitlin E LawsonKirsty McWalterAida TelegrafiRichard PearsonMalin KvarnungXia WangWeimin BiJill Anne RosenfeldMarwan S ShinawiPublished in: Journal of medical genetics (2020)
Variants in TNRC6B cause a novel genetic disorder characterised by recurrent neurocognitive and behavioural phenotypes featuring DD/ID, autism, ADHD and other behavioural abnormalities. Our data highly suggest that haploinsufficiency is the most likely pathogenic mechanism. TNRC6B should be added to the growing list of genes of the RNA-induced silencing complex associated with ID/DD, autism and ADHD.