Genetic screening for hearing impairment and the genotype-phenotype correlation of GJB2 c.109G>A variants in 47,729 neonates: a population-based study in southern China

Key Points

• Hearing impairment was linked to specific GJB2 variants in neonates, enhancing early detection efforts.
• Among 47,729 neonates, a significant correlation was established between genotype and phenotype for GJB2 c.109G>A.
• This population-based study utilized genetic screening to assess hearing impairment prevalence and associated variants.
• Unlocking this correlation may lead to improved genetic counseling and interventions for affected families.