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目的 通过分析自贡市妇幼保健院2315例新生儿听力联合耳聋基因筛查结果，探究自贡市新生儿耳聋基因携带率和基因突变个体的听力状况，为优化自贡市耳聋防控策略提供科学依据。方法 纳入2022年5月至2024年7月自贡市妇幼保健院2315例新生儿为研究对象，对新生儿实施常规听力筛查，并针对GJB2、GJB3、SLC26A4及线粒体12S rRNA基因的23个位点进行耳聋基因联合筛查。对于听力筛查未通过的新生儿，在3月龄内进行听力诊断。结果 2315例新生儿中，检出耳聋基因阳性557例，占比24.1%。GJB2基因c.109G>A位点基因突变频率最高（10.4%），其次为GJB2基因c.235delC位点（1.1%）、SLC26A4基因c.919-2A>G位点（0.6%）。听力与基因联合筛查结果显示，2263例（97.9%）新生儿两项筛查均通过，30例（1.3%）基因筛查未通过，8例（0.4%）听力筛查未通过，11例（0.5%）两项筛查均未通过。两项筛查均未通过的11例新生儿均携带GJB2基因突变，其中10例携带c.109G>A位点。经听力诊断，4例基因筛查未通过的新生儿确诊为听力损失，其中3例携带c.109G>A纯合突变、1例携带c.109G>A/c.235delC复合杂合突变。结论GJB2基因c.109G>A位点是自贡市最普遍的致聋突变位点，在耳聋防控中应予以重点关注。对于c.109G>A纯合或复合杂合突变的携带者，建议实施定期听力随访，以实现早发现和早干预。
Abstract：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 longterm hearing follow-ups for early detection and intervention.
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基本信息:
中图分类号:R764.43
引用信息:
[1]叶强,陈宇翔,黄国平,等.自贡市2315例新生儿听力联合耳聋基因筛查结果分析[J].中华耳科学杂志,2026,24(01):4-8.
2026-01-12
2026-01-12