A novel mutation of ZNF462 gene c.1762C > A (p.Pro576Thr) associated with Weiss-Kruszka syndrome.
This study makes a valuable contribution by expanding the variant spectrum of the ZNF462 gene and elucidating the genetic etiology of Weiss-Kruszka syndrome. The heterozygous mutation in ZNF462 directly causes WSKA in the patient. Furthermore, mutations in other genes interacting with ZNF462 can lead to similar symptoms of WSKA. Additionally, the interaction between ZNF462 and its associated protein ACOX1 may form a crucial protein complex that is vital for normal development, although further investigation is needed to fully understand its specific functions.