Effects of loss of the Börjeson–Forssman–Lehmann syndrome gene PHF6 on brain development
Melody Leong, Helen McRae, Maria Bergamasco, Anthony Hannan, Tim Thomas, Anne Voss · FENS Forum 2024
Plant homeodomain finger gene 6 (PHF6) is a highly conserved chromatin associated protein that is important for neurodevelopment and hematopoiesis. Inherited or de novo mutations in the PHF6 gene cause Börjeson–Forssman–Lehmann syndrome (BFLS), a rare X-linked neurodevelopmental and endocrine disorder. Patients with BFLS present with intellectual disability (ID), which affects cognitive functioning and adaptive behaviour. To progress our understanding of how PHF6 mutations affect the nervous system in BFLS, we studied the impact of deletion of the Phf6 gene on brain development in conditional
ePoster · Neuroscience