POU4F1
The POU4F1 Gene: A Guardian of Brain Development and Beyond
Description
The POU4F1 gene, located on chromosome 13q14, is a transcription factor responsible for orchestrating gene expression during brain development. It encodes a protein known as POU4F1 that plays a pivotal role in regulating the expression of numerous genes essential for neuronal differentiation, axonal outgrowth, and synaptic plasticity.
Associated Diseases
Dysfunction or mutations in the POU4F1 gene have been linked to various neurological and developmental disorders, including:
- Pitt-Hopkins syndrome: A rare genetic disorder characterized by intellectual disability, distinctive facial features, and developmental delays. POU4F1 mutations are the primary genetic cause of this syndrome.
- Epilepsy: POU4F1 is associated with an increased risk of seizures, particularly in children with Pitt-Hopkins syndrome.
- Autism spectrum disorder (ASD): Studies have implicated POU4F1 alterations in some individuals with ASD.
- Intellectual disability without specific genetic cause: In some cases, intellectual disability without an identifiable genetic cause has been linked to mutations in the POU4F1 gene.
Did you Know ?
Recent research suggests that POU4F1 mutations are found in approximately 1 in 100,000 individuals worldwide, highlighting the relatively low prevalence of POU4F1-related disorders.
