Basal ganglia agenesis and homeobox gene GSX2 mutations

Takeaway

  • Two children are reported presenting a unique complex malformation of the basal ganglia and the diencephalic-mesencephalic junction (DMJ) caused by homozygous loss of function variants of the GSX2 homeobox gene.

Why this matters

    Neurodevelopmental syndromes characterized by basal ganglia agenesis are not known to date; here, a new clinical phenotype and genetic cause associated with basal ganglia agenesis in humans are reported.