Ontology highlight
ABSTRACT:
SUBMITTER: Dulovic-Mahlow M
PROVIDER: S-EPMC6612514 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
Dulovic-Mahlow Marija M Trinh Joanne J Kandaswamy Krishna Kumar KK Braathen Geir Julius GJ Di Donato Nataliya N Rahikkala Elisa E Beblo Skadi S Werber Martin M Krajka Victor V Busk Øyvind L ØL Baumann Hauke H Al-Sannaa Nouriya Abbas NA Hinrichs Frauke F Affan Rabea R Navot Nir N Al Balwi Mohammed A MA Oprea Gabriela G Holla Øystein L ØL Weiss Maximilian E R MER Jamra Rami A RA Kahlert Anne-Karin AK Kishore Shivendra S Tveten Kristian K Vos Melissa M Rolfs Arndt A Lohmann Katja K
American journal of human genetics 20190620 1
De novo variants represent a significant cause of neurodevelopmental delay and intellectual disability. A genetic basis can be identified in only half of individuals who have neurodevelopmental disorders (NDDs); this indicates that additional causes need to be elucidated. We compared the frequency of de novo variants in patient-parent trios with (n = 2,030) versus without (n = 2,755) NDDs. We identified de novo variants in TAOK1 (thousand and one [TAO] amino acid kinase 1), which encodes the ser ...[more]