Investigating the pathogenic potential of CLSTN1 variants in neurodevelopmental disorders
Christina Priller, Esen Gümüslü, Shreyas Sakharwade, Birgit Vogler, Arif B. Ekici, André Reis, Peter Soba · FENS Forum 2024
Neurodevelopmental disorders (NDDs) pose a significant challenge to patients and their families, causing severe intellectual impairment, health complications and a diminished life expectancy. Yet, in approximately half of the affected individuals, the causal genetic variants remain elusive. Utilizing a comprehensive genetic screening strategy in a cohort of consanguineous families with multiple affected children, several gene variants associated with NDDs were identified. Among these, CLSTN1 emerged as a compelling candidate due to its high expression in the nervous system and high degree of c
ePoster · Neuroscience