What are the Genetic and Molecular Mechanisms Behind Pelger-Huët Anomaly?
The condition is inherited in an autosomal dominant manner. The underlying cause is a mutation in the lamin B receptor gene (LBR), located on chromosome 1q42. This gene is essential for the proper organization of nuclear chromatin and the shape of the nucleus. Mutations in LBR disrupt these processes, leading to the characteristic nuclear abnormalities seen in PHA.
