Wang Xudong, Chen Jiafei, Cai Meijiao, Zhang Liping, Tian Chaoyi, Ge Yunsheng, Zhang Guowang, Zhou Yulin
Xiamen Newborn Screening Center, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen, Fujian, China.
Department of Central Laboratory, School of Medicine, Xiamen University, Xiamen, Fujian, China.
Sci Rep. 2025 Jul 2;15(1):22630. doi: 10.1038/s41598-025-06744-w.
Hearing loss (HL) is a common sensorineural defect. Wide-spread genetic screening is important for early diagnosis and intervention. We aimed to evaluate and compare the clinical performance of the MeltPro HL assay and a targeted next-generation sequencing assay for genetic screening of HL and to explore the relationship between the c.109G > A genotype and the HL phenotype. From December 2021 to December 2022, we recruited 220 patients who agreed to undergo the MeltPro HL and targeted next-generation sequencing assays for genetic HL screening. In our cohort, the degree of HL was mainly mild to moderate (78.64%, 173/220). In the MeltPro HL and targeted next-generation sequencing genetic screening assays, 34 patients (34/220, 15.45%) and 145 patients (145/220, 65.91%), respectively, were genetic positive for variants in HL-related genes. GJB2 and SLC26A4 were the two most common HL-causing genes detected among our cohorts of outpatients in Xiamen. The most prevalent variants of GJB2 and SLC26A4 were c.109G > A and c.919-2 A > G, with allelic frequencies of 52.95% (233/440) and 2.50% (11/440), respectively. In addition, a biallelic c.109G > A variant was identified in 115 (79.31%, 115/145) patients, and 93.91% (108/115) of them had mild-to-moderate HL. Our data showed that the MeltPro HL assay is an easy-to-use, satisfactory, and cost-effective genetic screening method for routine use in most laboratories, especially in remote areas of China. It has great potential to improve the diagnosis and prevention of HL in Xiamen when variant c.109G > A is included.
听力损失（HL）是一种常见的感音神经性缺陷。广泛的基因筛查对于早期诊断和干预至关重要。我们旨在评估和比较MeltPro HL检测法和靶向新一代测序检测法在HL基因筛查中的临床性能，并探讨c.109G＞A基因型与HL表型之间的关系。2021年12月至2022年12月，我们招募了220名同意接受MeltPro HL检测法和靶向新一代测序检测法进行HL基因筛查的患者。在我们的队列中，HL程度主要为轻度至中度（78.64%，173/220）。在MeltPro HL检测法和靶向新一代测序基因筛查检测法中，分别有34名患者（34/220，15.45%）和145名患者（145/220，65.91%）的HL相关基因变异呈基因阳性。GJB2和SLC26A4是我们在厦门门诊队列中检测到的两个最常见的致HL基因。GJB2和SLC26A4最常见的变异分别为c.109G＞A和c.919-2 A＞G，等位基因频率分别为52.95%（233/440）和2.50%（11/440）。此外，在145名患者中的115名（79.31%，115/145）中鉴定出双等位基因c.109G＞A变异，其中93.91%（108/115）的患者患有轻度至中度HL。我们的数据表明，MeltPro HL检测法是一种易于使用、令人满意且具有成本效益的基因筛查方法，可在大多数实验室常规使用，尤其是在中国偏远地区。当纳入c.109G＞A变异时，它在改善厦门HL的诊断和预防方面具有巨大潜力。
