CDH23 and hearing loss disorder: These studies revealed that both the p.(Asp918Asn) and p.(Val1670Asp) mutations identified in the patients affected conserved CDH23 amino acids and were predicted to have serious detrimental effects by multiple in silico tools.[22] Another study demonstrated that mutations in CDH23 led to defects in purine metabolism, resulting in insufficient ATP, which is essential for the normal function of hair cells, and consequently led to hearing loss.[23] This provides supporting evidence to our study, suggesting that these 2 novel mutations found could result in hearing loss.