ArticleBMC medical genetics2004
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.
Article in BMC medical genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 37 citations in OpenAlex.
- A novel frameshift variant in the TMPRSS3 gene causes nonsyndromic hearing loss in a consanguineous family.BMC medical genomics · 2024Article
- Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.Journal of cellular and molecular medicine · 2024Review
- Genotype-Phenotype Correlations in TMPRSS3 (DFNB10/DFNB8) with Emphasis on Natural History.Audiology & neuro-otology · 2023Review
- Molecular genetic landscape of hereditary hearing loss in Pakistan.Human genetics · 2022Review
- A frameshift mutation ofFrontiers in pediatrics · 2022Article
- TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling.Frontiers in genetics · 2021Article
- Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen.Scientific reports · 2017Article
- Novel Mutations and Mutation Combinations ofBioMed research international · 2017Article
- Identification ofNeural plasticity · 2017Article
- A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect.Human genetics · 2017Article
- Performance and prognostic utility of the 92-gene assay in the molecular subclassification of ampullary adenocarcinoma.BMC cancer · 2016Article
- TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2016Article
- The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations.Genetic testing and molecular biomarkers · 2015Review
- Article
- Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.PloS one · 2014Article
- Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL.European journal of human genetics : EJHG · 2013Article
- Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.Clinical genetics · 2012Article
- Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.Journal of the Association for Research in Otolaryngology : JARO · 2011Article
- Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing.The Journal of biological chemistry · 2011Article
- Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.European journal of human genetics : EJHG · 2009Article
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Authors and funding
17 authors at 8 institutions in 3 countries.
Funding
Abstract
backgroundMutant alleles of TMPRSS3 are associated with nonsyndromic recessive deafness (DFNB8/B10). TMPRSS3 encodes a predicted secreted serine protease, although the deduced amino acid sequence has no signal peptide. In this study, we searched for mutant alleles of TMPRSS3 in families from Pakistan and Newfoundland with recessive deafness co-segregating with DFNB8/B10 linked haplotypes and also more thoroughly characterized the genomic structure of TMPRSS3.
methodsWe enrolled families segregating recessive hearing loss from Pakistan and Newfoundland. Microsatellite markers flanking the TMPRSS3 locus were used for linkage analysis. DNA samples from participating individuals were sequenced for TMPRSS3. The structure of TMPRSS3 was characterized bioinformatically and experimentally by sequencing novel cDNA clones of TMPRSS3.
resultsWe identified mutations in TMPRSS3 in four Pakistani families with recessive, nonsyndromic congenital deafness. We also identified two recessive mutations, one of which is novel, of TMPRSS3 segregating in a six-generation extended family from Newfoundland. The spectrum of TMPRSS3 mutations is reviewed in the context of a genotype-phenotype correlation. Our study also revealed a longer isoform of TMPRSS3 with a hitherto unidentified exon encoding a signal peptide, which is expressed in several tissues.
conclusionMutations of TMPRSS3 contribute to hearing loss in many communities worldwide and account for 1.8% (8 of 449) of Pakistani families segregating congenital deafness as an autosomal recessive trait. The newly identified TMPRSS3 isoform e will be helpful in the functional characterization of the full length protein.
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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.