Expanding the clinical phenotype of RNA Polymerase III Subunit A gene mutations: a case report

Takeaway

  • Novel mutations in the RNA Polymerase III Subunit A (POLR3A) gene lead to a newly identified clinical phenotype, characterized by neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis, suggesting a new classification is required.

Why this matters

    This study highlights the importance of a detailed clinical report combined with molecular studies in conditions associated with POLR3A mutations.