中国福建地区产前队列中耳聋相关基因的遗传图谱与携带者筛查
Genetic Landscape and Carrier Screening of Deafness-Associated Genes in a Prenatal Cohort from Fujian, China.
文献信息
| PMID | 42974139 |
|---|---|
| 原文 | 在 PubMed 查看原文 ↗ |
| 发表日期 | 2026 |
| 作者 | Jianping Tang |
| 作者单位 | Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, Fujian, People's Republic of China. |
| 期刊 | International journal of women's health |
| SCI 分区 | Q2 |
| IF | 3 |
| 研究类型 | 临床研究 · 临床 |
| 所属专科 | 耳科 |
中文摘要
目的： 本研究旨在调查中国南方地区孕妇及其男性伴侣中GJB2、SLC26A4、GJB3和MT-RNR1基因致病性变异的携带频率。
方法： 在这项回顾性队列研究中，1402名孕妇通过靶向下一代测序接受了这四种耳聋相关基因的携带者筛查，不愿参与研究者被排除。配偶接受后续检测和咨询者也被纳入。进行了产前诊断和产后遗传检测及听力筛查，以评估新生儿结局。
结果： 在最终纳入分析的1192名孕妇中，611人被确定为GJB2、SLC26A4、GJB3或MT-RNR1致病性或可能致病性变异的携带者。GJB2的携带频率最高（23.6%），其中c.109G>A和c.235delC是最常检测到的变异。此外，349名配偶接受了检测，同样以GJB2为主。级联筛查识别出41对高危夫妇，包括三对接受产前诊断的高风险夫妇。在39名新生儿中，大多数为耳聋相关变异的杂合携带者；三名GJB2 c.109G>A变异纯合婴儿表现为轻度听力损失，但保持正常交流能力。这些发现支持携带者筛查和遗传咨询在评估遗传性听力损失风险中的效用。
结论： 本研究表明中国南方孕妇及其伴侣中耳聋相关变异具有较高的携带频率。在发现母体携带者后进行序贯伴侣筛查，能够检出具有生殖风险的夫妇，从而促进高危妊娠的遗传咨询和产前诊断。
英文摘要
PURPOSE: This study aimed to investigate the carrier frequencies of pathogenic variants in the GJB2, SLC26A4, GJB3, and MT-RNR1 genes among a Chinese pregnant population and their male partners in southern China.
METHODS: In this retrospective cohort, 1402 pregnant women underwent carrier screening for these four deafness-related genes using targeted next-generation sequencing, and those not willing to participate the study were excluded. Spouses received follow-up testing and counseling were also included. Prenatal diagnosis and postnatal genetic testing with hearing screening were performed to assess newborn outcomes.
RESULTS: Among the 1192 pregnant women included in the final analysis, 611 were identified as carriers of pathogenic or likely pathogenic variants in GJB2, SLC26A4, GJB3, or MT-RNR1. GJB2 showed the highest carrier frequency (23.6%), with c.109G>A and c.235delC being the most frequently detected variants. Additionally, 349 spouses underwent the testing, with similar predominance of GJB2. Cascade screening identified 41 at-risk couples, including three high-risk couples undergoing prenatal diagnosis. Among 39 newborns, most were heterozygous carriers of deafness-associated variants; three infants homozygous for GJB2 c.109G>A variant exhibited mild hearing loss but maintained normal communication ability. These findings support the utility of carrier screening and genetic counseling in assessing hereditary hearing loss risk.
CONCLUSIONS: This study demonstrated a substantial carrier frequency of deafness-associated variants among pregnant women and their partners in southern China. Sequential partner screening following identification of maternal carriers enabled the detection of couples at reproductive risk, facilitating genetic counseling and prenatal diagnosis for high-risk pregnancies.