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目的 分析成都市924例听力障碍婴幼儿23项耳聋基因筛查结果，为婴幼儿听力障碍病因学诊断及临床干预提供依据。方法 选取2022年5月1日至2023年12月31日在成都市出生的250 726例新生儿中未通过单侧或双侧听力诊断的924例婴幼儿，23项耳聋基因检测采用微流控芯片法对4个耳聋基因（GJB2、SLC26A4、12SrRNA、GJB3）23个位点进行检测，分析听力障碍婴幼儿各耳聋基因位点的突变率。结果 924例听力障碍婴幼儿中占筛查人数的3.69‰（924/250 726），其中单侧听力障碍419例（左耳238例，右耳181例），双侧听力障碍505例。23项耳聋基因检测至少1个突变位点人数为529例，占比57.25%，其中双等位基因突变（包括纯合突变和复合杂合突变）新生儿数375例，占比40.58%。双侧听力障碍婴幼儿双等位基因突变（包括纯合突变和复合杂合突变）检出率（57.23%,289/505）显著高于单侧听力障碍婴幼儿（20.53%,86/419），差异有显著性意义（P<0.05）；左侧听力障碍婴幼儿双等位基因突变25.63%(61/238)，显著高于右侧听力障碍婴幼儿的检出率（13.81%,25/181），差异有显著性意义（P<0.05）。结论 婴幼儿听力障碍防控应当结合耳聋基因检测，有助于遗传学病因诊断，可为临床早期干预提供有利依据。
Abstract：Objective To report results of screening of 23 deafness gene sites in 924 infants with hearing impairment in Chengdu to provide evidence for etiological diagnosis and clinical intervention. Methods From May 1, 2022, to December 31, 2023, 924 infants failed hearing diagnostics in at least one ear among 250,726 newborns in Chengdu(3.69‰), and were screened using a microfluidic chip-based method that covered 23 sites across four deafnessassociated genes(GJB2, SLC26A4, 12SrRNA and GJB3). Mutation rates of deafness-related loci were calculated. Results Of the 924 infants with hearing impairment, 419 had unilateral impairment(238 on left, 181 on right) and 505 had bilateral impairment. Genetic testing identified pathogenic variants in 529(57.25%) of them, including biallelic mutations(homozygous or compound heterozygous) in 375(40.58%), with the rate of biallelic mutations significantly higher in bilateral impairment cases(57.23%, 289/505) than in unilateral impairment cases(20.53%, 86/419)(P<0.05). Left-ear impairment exhibited a higher rate of biallelic mutations(25.63%, 61/238) compared to right-ear impairment(13.81%, 25/181)(P<0.05). Conclusion Integrating 23-site neonatal deafness genetic screening into hearing screening enhances etiological diagnosis and provides a valuable basis for early clinical intervention in infants hearing impairment.
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基本信息:
中图分类号:R764.43
引用信息:
[1]刘青松,邹凌,孙梦婕,等.924例听力障碍婴幼儿23项耳聋基因筛查结果分析[J].中华耳科学杂志,2025,23(06):775-779.
基金信息:
四川省科技厅项目资助(2023YFQ0069)
2025-09-02
2025-09-02