ArticleJournal of Zhejiang University. Science. B
New SNP variants of MARVELD2 (DFNB49) associated with non-syndromic hearing loss in Chinese population.
Article in Journal of Zhejiang University. Science. B. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 7 citations in OpenAlex.
- Bi-AllelicInternational journal of molecular sciences · 2025Article
- Novel compound heterozygous variants in MARVELD2 causing autosomal recessive hearing loss in two Chinese families.Molecular genetics & genomic medicine · 2024Article
- Case report: A novel nonsense mutation in theFrontiers in genetics · 2024Article
- A Rare Mutation in theInternational medical case reports journal · 2020Article
- Frontiers in auditory bioscience and technology: a special feature on recent advances in hearing research.Journal of Zhejiang University. Science. BArticle
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Authors and funding
8 authors at 3 institutions in 1 country.
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Abstract
Non-syndromic hearing loss (NSHL) is a common defect in humans. Variants of MARVELD2 at the DFNB49 locus have been shown to cause bilateral, moderate to profound NSHL. However, the role of MARVELD2 in NSHL susceptibility in the Chinese population has not been studied. Here we conducted a case-control study in an eastern Chinese population to profile the spectrum and frequency of MARVELD2 variants, as well as the association of MARVELD2 gene variants with NSHL. Our results showed that variants identified in the Chinese population are significantly different from those reported in Slovak, Hungarian, and Czech Roma, as well as Pakistani families. We identified 11 variants in a cohort of 283 NSHL cases. Through Sanger sequencing and bioinformatics analysis, we found that c.730G>A variant has detrimental effects in the eastern Chinese population, and may have relatively high correlation with NSHL pathogenicity.
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