This website provides information on patients with mutations in the GNAI1 gene, including clinical data, molecular data, management, and research options.
The GNAI1 encodes an alpha subunit of guanine nucleotide-binding proteins which function as signal transducers in numerous cellular signalling pathways. They are fundamental for normal development and functioning of central nervous system. Mutations in the GNAI1 gene can lead to the non-specific neurodevelopmental disorder with hypotonia, impaired speech, and behavioural abnormalities.
The aim of this website it to collect on patients with rare mutations in the GNAI1 gene which is a novel gene with a role in the pathogenesis of neurodevelopmental disorders.
Recurrent phenotypic features include mild to profound developmental delay and particularly affected speech with language delays, vast majority of patients have behavioural problems. Not all individuals with a mutation in the GNAI1 gene have only these features. Hypotonia and impaired motor skills commonly occur whereas hypertonia or spasticity are rather rare features. Somatic abnormalities are more variable, including facial dysmorphia, skeletal abnormalities, or structural brain abnormalities. The phenotypic spectrum observed in affected individuals is very variable in its manifestation and severity.
This website was created to share and collect information about clinic, management, and research projects to gather more knowledge and provide better treatment of patients with mutations in the GNAI1 gene.
We invite clinicians who have identified a mutation in the GNAI1 gene in their patient(s) to submit their data to the database.
Marketa Wayhelova, PhD, Department of Experimental Biology, Faculty of Science, Masaryk University Centre of molecular biology and genetics, Internal hematology and oncology clinic, University Hospital Brno, Brno, Czech Republic, firstname.lastname@example.org, email@example.com
Petr Kuglik, Assoc. Prof., Department of Experimental Biology, Faculty of Science, Masaryk University Centre of molecular biology and genetics, Internal hematology and oncology clinic, University Hospital Brno, Brno, Czech Republic, firstname.lastname@example.org