Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

Bi-allelic variants in the translational GTPases GTPBP1 and GTPBP2 may affect ribosomal translational control and impair brain development and neurological function. This research identifies 20 individuals with homozygous GTPBP1 and GTPBP2 variants leading to an identical neurodevelopmental syndrome, which we defined as “Gtpbp1/2-related ectodermal neurodevelopmental (GREND) syndrome.”

Source: The American Journal of Human Genetics - December 19, 2023 Category: Genetics & Stem Cells Authors: Vincenzo Salpietro, Reza Maroofian, Maha S. Zaki, Jamie Wangen, Andrea Ciolfi, Sabina Barresi, Stephanie Efthymiou, Angelique Lamaze, Gabriel N. Aughey, Fuad Al Mutairi, Aboulfazl Rad, Clarissa Rocca, Elisa Cal ì, Andrea Accogli, Federico Zara, Pasquale Tags: Report Source Type: research