Novel neurodevelopmental disorder identified
Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice
Numerous genes are important for proper development of the nervous system. As part of an international research team, researchers at CENTOGENE contributed to the identification of a novel cause for impaired neurodevelopment. They identified mutations in SVBP, the protein product of which is responsible for maintaining microtubule plasticity. These findings were published in Human Molecular Genetics.