Researchers have identified mutations in the carboxypeptidase D (CPD) gene as a significant cause of congenital hearing loss. This study revealed three missense variants of the CPD gene linked to deafness in five individuals from three families. Analyses confirmed a strong association between rare CPD mutations and hearing loss. The enzyme plays a critical role in nitric oxide production, with mutations reducing its activity and affecting cell health, leading to increased oxidative stress and cell death. The findings could expand diagnostic testing and treatment options for congenital hearing loss.
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