Infantile Developmental Delay Caused by Pathogenic Mutation in WDR45 Gene and Literature Review

Abstract Background The reasons of infantile developmental delay are varied and complexity. The mode of BPAN inheritance clinical manifestation and imaging findings of childhood BPAN patients are not typical. The reason of WDR45 mutation is still elusive. This study has the objective to give a comprehensive overview of the genetic and phenotypic spectrum of WDR45 mutations. Methods This study recruited 258 infants with developmental delay of the babies from Shengjing Hospital of China Medical University and performed a customdesigned gene panel to capture all exons and 5 base pairs of flanking intronic sequence. We reviewed the WDR45 mutation cases reported before. Results We identified two de novo variants in WDR45 mutation and listed the clinical manifestation and treatments. This study summarized variants of the gene WDR45 mutation expression in previous investigations. Childhood patients have the clinical features as generalized developmental delay, seizures, intellectual disorder. By contrast, adolescence and early adulthood patient have the features like developmental regression, dystonia and parkinsonism. Conclusion Our study suggest WDR45 mutations cause a series spectrum of neurodegeneration disorders and are most important etiology of BPAN. The developmental delay of infant is not obvious and rarely to be attention. The mode of BPAN inheritance clinical manifestation and imaging findings of infantile BPAN patients are not typical. WDR45 gene mutaion has closely relationship with the function of endoplasmic reticulum and mitochondria.