Genetic and nongenetic etiologies of congenital hearing loss
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The present study aims to investigate the etiologies of congenital hearing loss, with a primary focus on examining genetic and nongenetic causes separately. Based on evidence from molecular genetics, epidemiology, and clinical research, it also incorporates biological mechanisms to clarify inheritance patterns and environmental risks. A comprehensive review of studies published up to March 2025 was conducted using major databases. Approximately 50% of congenital hearing loss cases are genetic in origin, encompossing nonsyndromic forms-most commonly due to autosomal recessive mutations in the GJB2 gene at the DFNB1 locus-as well as syndromic conditions such as Usher, Pendred, Waardenburg, and Alport syndormes, which are aassociated with systemic abnormalities. Nongenetic factors include prenatal infections, ototoxic drugs, and perinatal complications. A deeper understanding of these etiologies is essential for advancing early diagnostic tools and developing targeted therapeutic strategies.
Abstract
The present study aims to investigate the etiologies of congenital hearing loss, with a primary focus on examining genetic and nongenetic causes separately. Based on evidence from molecular genetics, epidemiology, and clinical research, it also incorporates biological mechanisms to clarify inheritance patterns and environmental risks. A comprehensive review of studies published up to March 2025 was conducted using major databases. Approximately 50% of congenital hearing loss cases are genetic in origin, encompossing nonsyndromic forms-most commonly due to autosomal recessive mutations in the GJB2 gene at the DFNB1 locus-as well as syndromic conditions such as Usher, Pendred, Waardenburg, and Alport syndormes, which are aassociated with systemic abnormalities. Nongenetic factors include prenatal infections, ototoxic drugs, and perinatal complications. A deeper understanding of these etiologies is essential for advancing early diagnostic tools and developing targeted therapeutic strategies.