自贡市2315例新生儿听力联合耳聋基因筛查结果分析OA

Objective To report the results of neonatal concurrent hearing and genetic screening conducted at Zigong Maternity and Child Health Care Hospital,including the rate of deafness genes carriers and hearing status of individuals with gene mutations,to provide a scientific basis for optimizing local strategies for the prevention and control of deafness.Methods Between May 2022 and July 2024,routine hearing screenings were conducted on 2,315 newborns,together with screening for mutations at 23 sites of the GJB2,GJB3,SLC26A4 and mitochondrial 12S rRNA genes.For newborns who failed the hearing screening,audiological diagnoses were completed within three months after birth.Results 557 newborns(24.1%)tested positive for pathogenic mutations,with GJB2 c.109 G>A(10.4%)showing the highest frequency among all genotypes,followed by GJB2 c.235 delC(1.1%)and SLC26A4 c.919-2A>G(0.6%).While 2,263(97.9%)passed both hearing and genetic screenings,30(1.3%)failed genetic screening,8(0.4%)failed hearing screening,and 11(0.5%)failed both.The 11 newborns failing both screenings all carried mutations in the GJB2 gene,with 10(90.9%)carrying the c.109G>A mutation.Audiological diagnosis confirmed,hearing loss in 4 newborns who failed the genetic screening,including 3 with homozygous c.109G>A mutation and 1 with compound heterozygous c.109G>A/c.235 del C mutation.Conclusions GJB2 c.109G>A is the most common deafness-associated mutation in Zigong.Carriers of homozygous or compound heterozygous mutations require long-term hearing follow-ups for early detection and intervention.