Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling
Kimberly A. Chapman, Farid Ullah, Zachary A Yahiku, Sheraz Jamal Khan, Sri Varsha Kodiparthi, Georgios Kellaris, Hazel G. White, Andrew T. Powell, Sandrina P. Correia, Tommy Stödberg, Christalena Sofocleous, Nikolaos M. Marinakis, Helen Fryssira, Eirini Tsoutsou, Jan Traeger-Synodinos, , Martha R. C. Bhattacharya
The paper identifies pathogenic TMEM184B variants in six pediatric cases and shows they disrupt metabolic signaling and neural development through functional studies in zebrafish and human cells.
The American Journal of Human Genetics · Aug 29, 2025Peer-reviewedGenetic & Genomic Medicine