Evidence map›Paper›PMID 40595116›Full record

ArticleScientific reports2025

Comparison of clinical performance of MeltPro hearing loss assay and targeted next generation sequencing assay for genetic screening of hearing loss.

Xudong Wang, Jiafei Chen, Meijiao Cai, Liping Zhang, Chaoyi Tian, Yunsheng Ge, Guowang Zhang, Yulin Zhou

Abstract readComparative Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Scientific reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Xudong Wang *Xiamen Newborn Screening Center, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen, Fujian, China.
Jiafei Chen *Department of Otolaryngology, Women and Children's Hospital, School of Medicine, Xiamen University, 10 Zhenhai Road, Si Ming District, Xiamen, 361102, Fujian, China.
Meijiao Cai *Department of Central Laboratory, School of Medicine, Xiamen University, Xiamen, Fujian, China.
Liping ZhangDepartment of Otolaryngology, Women and Children's Hospital, School of Medicine, Xiamen University, 10 Zhenhai Road, Si Ming District, Xiamen, 361102, Fujian, China.
Chaoyi TianDepartment of Otolaryngology, Women and Children's Hospital, School of Medicine, Xiamen University, 10 Zhenhai Road, Si Ming District, Xiamen, 361102, Fujian, China.
Yunsheng GeDepartment of Central Laboratory, School of Medicine, Xiamen University, Xiamen, Fujian, China. gshee@163.com.
Guowang ZhangDepartment of Otolaryngology, Women and Children's Hospital, School of Medicine, Xiamen University, 10 Zhenhai Road, Si Ming District, Xiamen, 361102, Fujian, China. zhang96035@163.com.
Yulin ZhouXiamen Newborn Screening Center, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen, Fujian, China. zhou_yulin@126.com.

Funding

National Natural Science Foundation of China 82101824Young and Middle-aged Talent Cultivation Projects of Fujian Province 2019-ZQNB-32
6 · The paper itself

Abstract

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.

Indexed as

Genetic TestingHearing LossHigh-Throughput Nucleotide SequencingAdolescentAdultAgedChildConnexin 26FemaleGene FrequencyGenotypeHumansMaleMiddle AgedSulfate TransportersYoung AdultConnexin 26GJB2 protein, humanSLC26A4 protein, humanSulfate TransportersGenetic screeningHearing lossMeltPro HL assayTargeted next-generation sequencing assay

Identifiers

PMID40595116
PMCPMC12216770

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.