ArticleHuman genetics2015
Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss.
Article in Human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 21 citations in OpenAlex.
- Enhanced identification of novel pathogenic variants in hereditary hearing loss through physical phasing with integrated short and long-read sequencing data.Molecular genetics and genomics : MGG · 2025Article
- 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
- Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.Journal of cellular and molecular medicine · 2024Review
- Case report: A novel nonsense mutation in theFrontiers in genetics · 2024Article
- Molecular genetic landscape of hereditary hearing loss in Pakistan.Human genetics · 2022Review
- Angulin-1 seals tricellular contacts independently of tricellulin and claudins.The Journal of cell biology · 2021Article
- Article
- Single gene variants causing deafness in Asian Indians.Journal of genetics · 2021Article
- A Rare Mutation in theInternational medical case reports journal · 2020Article
- Tricellulin Expression and its Deletion Effects in the Endolymphatic Sac.The journal of international advanced otology · 2018Article
- Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse.PLoS genetics · 2018Article
- A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect.Human genetics · 2017Article
- Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.PloS one · 2015Article
- New SNP variants of MARVELD2 (DFNB49) associated with non-syndromic hearing loss in Chinese population.Journal of Zhejiang University. Science. BArticle
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Authors and funding
16 authors at 9 institutions in 3 countries.
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Abstract
Pathogenic mutations of MARVELD2, encoding tricellulin, a tricelluar tight junction protein, cause autosomal recessive non-syndromic hearing loss (DFNB49) in families of Pakistan and Czech Roma origin. In fact, they are a significant cause of prelingual hearing loss in the Czech Roma, second only to GJB2 variants. Previously, we reported that mice homozygous for p.Arg497* variant of Marveld2 had a broad phenotypic spectrum, where defects were observed in the inner ear, heart, mandibular salivary gland, thyroid gland and olfactory epithelium. The current study describes the types and frequencies of MARVELD2 alleles and clinically reexamines members of DFNB49 families. We found that MARVELD2 variants are responsible for about 1.5 % (95 % CI 0.8-2.6) of non-syndromic hearing loss in our cohort of 800 Pakistani families. The c.1331+2T>C allele is recurrent. In addition, we identified a novel large deletion in a single family, which appears to have resulted from non-allelic homologous recombination between two similar Alu short interspersed elements. Finally, we observed no other clinical manifestations co-segregating with hearing loss in DFNB49 human families, and hypothesize that the additional abnormalities in the Marveld2 mutant mouse indicates a critical non-redundant function for tricellulin in other organ systems.
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