Evidence map›Paper›PMID 40322553›Full record

ArticleBiomedical reports2025

Targeted sequencing identifies 33 novel mutations in 130 ClinGen curated hearing loss genes among 253 pediatric patients: A retrospective case study.

Zhiying Zhou, Jiren Dai, Wenxin Chen, Fengjiao Zhu, Jiahua Shen, Pengpeng Wang, Xiaomeng Zhou, Yong Fu

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Biomedical 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

What it found

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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.

Zhiying ZhouDepartment of Otorhinolaryngology, Head and Neck Surgery, Children's Hospital Zhejiang University School of Medicine, Key Laboratory for Research on Genetic Defects and Developmental Disorders, Hangzhou, Zhejiang 310051, P.R. China.
Jiren DaiDepartment of Otorhinolaryngology, Head and Neck Surgery, Children's Hospital Zhejiang University School of Medicine, Key Laboratory for Research on Genetic Defects and Developmental Disorders, Hangzhou, Zhejiang 310051, P.R. China.
Wenxin ChenDepartment of Otorhinolaryngology, Head and Neck Surgery, Children's Hospital Zhejiang University School of Medicine, Key Laboratory for Research on Genetic Defects and Developmental Disorders, Hangzhou, Zhejiang 310051, P.R. China.
Fengjiao ZhuMyGenostics, Inc., Beijing 101318, P.R. China.
Jiahua ShenDepartment of Otorhinolaryngology, Head and Neck Surgery, Children's Hospital Zhejiang University School of Medicine, Key Laboratory for Research on Genetic Defects and Developmental Disorders, Hangzhou, Zhejiang 310051, P.R. China.
Pengpeng WangMyGenostics, Inc., Beijing 101318, P.R. China.
Xiaomeng ZhouMyGenostics, Inc., Beijing 101318, P.R. China.
Yong FuDepartment of Otorhinolaryngology, Head and Neck Surgery, Children's Hospital Zhejiang University School of Medicine, Key Laboratory for Research on Genetic Defects and Developmental Disorders, Hangzhou, Zhejiang 310051, P.R. China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hearing loss (HL) can occur at any age, with hereditary HL being one of the most prevalent congenital disabilities. In the present study, a cohort of pediatric patients with HL was established, comprising 259 individuals at the Children's Hospital of Zhejiang University from 2017-2022. All patients underwent comprehensive diagnostic evaluations, including complete clinical examinations and audiological assessments. Targeted genomic enrichment with massively parallel sequencing was applied to analyze the mutation spectrum of known hearing-loss genes in 253 Chinese children who had positive hearing screening results. Among the 253 patients, 211 (83.40%) exhibited bilateral HL, while 42 (16.60%) had unilateral HL. Targeted sequencing identified 197 variants in 104 genes, yielding a detection rate of 41.1%. A total of 144 genotypes were identified, including 62 heterozygous mutations, 6 hemizygous mutations, 23 homozygous mutations and 48 complex heterozygous mutations. The four most frequently identified genes were

Indexed as

hearing losshearing loss genesnovel mutationstargeted sequencing

Identifiers

PMID40322553
PMCPMC12046280

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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Registered trials

None linked

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 Socratic graph.