WDR72, or WD repeat-containing protein 72, is a gene with significant implications in multiple biological processes. It has been associated with regulating vesicle trafficking, specifically in ameloblasts where it controls endocytosis of proteins [1]. In addition, it may be involved in acid-base homeostasis as mutations in WDR72 are linked to distal renal tubular acidosis (dRTA) [2].

Mutations in WDR72 cause amelogenesis imperfecta (AI), an inherited enamel defect. In affected families, biallelic WDR72 mutations lead to hypomineralized, discolored enamel that is prone to attrition. Some patients with these mutations also show decreased serum pH, consistent with dRTA [3]. In a study on hypomaturation AI, various novel WDR72 mutations were identified in affected families, expanding the mutational spectrum [4].

In conclusion, WDR72 is crucial for proper tooth enamel formation and acid-base balance in the body. The identification of WDR72 mutations in patients with AI and dRTA through genetic studies helps in understanding the disease mechanisms. These findings may provide a basis for diagnosing and potentially treating these conditions in the future.