Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder

Bi-allelic variants in RPS6KC1 cause a neurodevelopmental disorder with features overlapping with Coffin-Lowry syndrome. Functional studies reveal impaired ribosomal protein synthesis, disrupted lipid signaling, and reduced mTOR activity, highlighting a critical role for RPS6KC1 in neurodevelopment via the regulation of PRDX3, SPHK1, and the mTOR/PI3K pathway.