Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome

Pathogenic variants in the spliceosome component WBP4 cause a severe neurodevelopmental disorder, expanding our understanding of spliceosome-related conditions. This research identifies ten individuals with five distinct homozygous loss-of-function WBP4 variants. This discovery reveals symptoms related to splicing targets of WBP4, shedding light on how abnormal splicing contributes to the disease.

Source: The American Journal of Human Genetics - November 13, 2023 Category: Genetics & Stem Cells Authors: Eden Engal, Kaisa Teele Oja, Reza Maroofian, Ophir Geminder, Thuy-Linh Le, Pauline Marzin, Anne Guimier, Evyatar Mor, Naama Zvi, Naama Elefant, Maha S. Zaki, Joseph G. Gleeson, Kai Muru, Sander Pajusalu, Monica H. Wojcik, Divya Pachat, Marwa Abd Elmaksoud Tags: Report Source Type: research