DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.
Alexandria T M BlackburnNasim BekheirniaVanessa C UmaMark E CorkinsYuxiao XuJill Anne RosenfeldMatthew N BainbridgeYaping YangPengfei LiuSuneeta Madan-KhetarpalMauricio R DelgadoLouanne HudginsIan KrantzDavid Rodriguez-BuriticaPatricia G WheelerLihadh Al-GazaliAisha Mohamed Saeed Mohamed Al ShamsiNatalia Gomez-OspinaHsiao-Tuan ChaoGhayda M MirzaaAngela E ScheuerleMary K KukolichFernando ScagliaChristine EngHelen Rankin WillseyMichael C BraunDolores J LambRachel K MillerMir Reza BekheirniaPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
Evidence supports routine GU screening of all individuals with de novo DYRK1A pathogenic variants to ensure optimized clinical management. Collectively, the reported clinical data and loss-of-function studies in Xenopus substantiate a novel role for DYRK1A in GU development.