Author(s): Rolfs, Prof. Arndt, MD, Klein, Prof. Christine, MD, Trujillano, Daniel, PhD, Lohmann, Katja, PhD, Oprea, Gabriela-Elena, PhD, Steinrücke, Sofia, Münchau, Alexander, MD, Masuho, Ikuo, PhD, Patil, Dipak N., PhD, Baumann, Hauke, Hebert, Eva, Skamangas, Nickolas K., Dobricic, Valerija, PhD, Hüning, Irina, MD, Gillessen-Kaesbach, Prof. Gabriele, MD, Westenberger, Ana, PhD, Savic-Pavicevic, Dusanka, PhD, Martemyanov, Kirill A., PhD
Using exome sequencing, we identified 14 different novel variants in GNB1 in 16 pediatric patients. Read more in our latest scientific articles!
Global developmental delay (GDD), often accompanied by intellectual disability, seizures and other features is a severe, clinically and genetically highly heterogeneous childhood-onset disorder. In cases where genetic causes have been identified, de-novo mutations in neuronally expressed genes are a common scenario. These mutations can be best identified by exome sequencing of parent-offspring trios. De novo mutations in the guanine nucleotide-binding protein, beta 1 (GNB1) gene, encoding the Gβ1 subunit of heterotrimeric G proteins, have recently been identified as a novel genetic cause of GDD.
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