Evidence map›Paper›PMID 42437880›Full record

ArticleMolecular medicine (Cambridge, Mass.)2026

Integrated analysis of STRC variants in hereditary hearing impairment using maker-mediated refinement of long-read sequencing with MLPA validation.

Cheng-Yu Tsai, Yue-Sheng Lu, Yu-Ting Chiang, Ming-Yu Lo, Pei-Hsuan Lin, Shih-Feng Tsai, Chuan-Jen Hsu, Pei-Lung Chen, Jacob Shu-Jui Hsu, Chen-Chi Wu

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Article in Molecular medicine (Cambridge, Mass.), 2026. 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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10 authors.

Cheng-Yu TsaiDepartment of Otolaryngology, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei, 100225, Taiwan.
Yue-Sheng LuDepartment of Otolaryngology, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei, 100225, Taiwan.
Yu-Ting ChiangGraduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, 1 Jen-Ai Road Sec.1, Taipei, 100233, Taiwan.
Ming-Yu LoDepartment of Otolaryngology, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei, 100225, Taiwan.
Pei-Hsuan LinDepartment of Otolaryngology, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei, 100225, Taiwan.
Shih-Feng TsaiInstitute of Molecular and Genomic Medicine, National Health Research Institute, Miaoli, 350401, Taiwan.
Chuan-Jen HsuDepartment of Otolaryngology, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei, 100225, Taiwan.
Pei-Lung ChenGraduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, 1 Jen-Ai Road Sec.1, Taipei, 100233, Taiwan.
Jacob Shu-Jui HsuGraduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, 1 Jen-Ai Road Sec.1, Taipei, 100233, Taiwan. jacobhsu@ntu.edu.tw.
Chen-Chi WuDepartment of Otolaryngology, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei, 100225, Taiwan. chenchiwu@ntuh.gov.tw.

Funding

National Health Research Institutes NHRI-113-B02National Health Research Institutes, Taiwan NHRI-EX111-10914PINational Science and Technology Council NSTC 110-2314-B-002-189-MY3National Taiwan University 111-UN0048National Taiwan University Hospital 111-UN0048National Taiwan University Hospital Hsin-Chu Branch NHRI-113-B02
6 · The paper itself

Abstract

backgroundSensorineural hearing impairment (SNHI) is a common disorder with a significant genetic basis. Standard next-generation sequencing (NGS) often fails to accurately identify pathogenic variants in the STRC gene due to its complex genomic structure, including large rearrangements and a highly homologous pseudogene. Long-read sequencing (LRS) offers improved resolution for these complex regions.

methodsWe developed a comprehensive workflow that integrates PacBio-based LRS with marker-mediated refinements and MLPA validations to specifically address pseudogene interference. This methodology was applied to analyze the STRC gene in a cohort of 100 unrelated Taiwanese patients with SNHI of unknown genetic origin after initial NGS screening.

resultsWe identified bi-allelic STRC variants in 11 unrelated patients (11% diagnostic yield), including homozygous deletions, compound heterozygous deletions and conversions, and compound heterozygous single nucleotide variants (SNVs) and copy number variants (CNVs). All unrelated cases resolved with bi-allelic STRC variants were affected with mild or moderate SNHI, occupying 15.1% of total 73 mild-to-moderate SNHI patients in this study.

conclusionOur results highlight the diagnostic utility of this combined strategy, integrating LRS with marker-mediated refinements that validated by MLPA assays, in detecting complex STRC variants and advance the understanding of the genetic etiology of SNHI that remains unresolved by conventional NGS approaches.

Indexed as

Hearing Loss, SensorineuralHigh-Throughput Nucleotide SequencingAllelesChildDNA Copy Number VariationsFemaleHumansIntercellular Signaling Peptides and ProteinsMaleMultiplex Polymerase Chain ReactionPolymorphism, Single NucleotideIntercellular Signaling Peptides and ProteinsSTRC protein, humanCopy number variantsHereditary hearing impairmentHigh-fidelity readsLong-reads sequencingMarker-mediated refinementsStereocilia

Identifiers

PMID42437880
PMCPMC13679130

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