Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency.

Marina Villamor-PayàMaría Sanchiz-CalvoJordann Smak Lynn S Pais Malika Sud Uma T Shankavaram Alysia Kern Lovgren Christina A Austin-Tse Vijay S Ganesh Marina Gay Marta Vilaseca Gianluca Arauz-Garofalo Lluís Palenzuela Grace E VanNoy Anne H O'Donnell-Luria Travis H Stracker

Published in: medRxiv : the preprint server for health sciences (2023)

Our study provides the first functional characterization of TLK1 variants associated with NDDs and suggests potential involvement in central nervous system and immune system development. Our results indicate that, like TLK2 variants, TLK1 variants may impact development in multiple tissues and should be considered in the diagnosis of rare NDDs.

Keyphrases

copy number
gene expression
human health
risk assessment
genome wide