ArticleJournal of medical genetics2015
A mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss.
Article in Journal of medical genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 48 citations in OpenAlex.
- Trial
- Deficiency in homozygous haplotypes reveals recessive lethal variants affecting fertility and viability in the Friesian horse.BMC genomics · 2026Article
- Article
- Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.Journal of cellular and molecular medicine · 2024Review
- Single-cell RNA-sequencing of stria vascularis cells in the adult Slc26a4BMC medical genomics · 2023Article
- The role of the stria vascularis in neglected otologic disease.Hearing research · 2023Review
- Alternative splicing in shaping the molecular landscape of the cochlea.Frontiers in cell and developmental biology · 2023Review
- ARNSHL gene identification: past, present and future.Molecular genetics and genomics : MGG · 2022Review
- Full etiologic spectrum of pediatric severe to profound hearing loss of consecutive 119 cases.Scientific reports · 2022Article
- Review
- HGF and MET: From Brain Development to Neurological Disorders.Frontiers in cell and developmental biology · 2021Review
- Single-Cell RNA-Seq of Cisplatin-Treated Adult Stria Vascularis Identifies Cell Type-Specific Regulatory Networks and Novel Therapeutic Gene Targets.Frontiers in molecular neuroscience · 2021Article
- Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing loss.Hearing research · 2020Article
- Noncoding Microdeletion in MouseThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2020Article
- MET targeting: time for a rematch.Oncogene · 2020Review
- The paradox of cancer genes in non-malignant conditions: implications for precision medicine.Genome medicine · 2020Review
- Growth factor and receptor malfunctions associated with human genetic deafness.Clinical genetics · 2020Review
- Single Cell and Single Nucleus RNA-Seq Reveal Cellular Heterogeneity and Homeostatic Regulatory Networks in Adult Mouse Stria Vascularis.Frontiers in molecular neuroscience · 2019Article
- Identification of Aberrantly Expressed lncRNAs Involved in Orthodontic Force Using a Subpathway Strategy.Computational and mathematical methods in medicine · 2019Article
- Genetic Hearing Loss and Gene Therapy.Genomics & informatics · 2018Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundHearing loss is a heterogeneous neurosensory disorder. Mutations of 56 genes are reported to cause recessively inherited non-syndromic deafness.
objectiveWe sought to identify the genetic lesion causing hearing loss segregating in a large consanguineous Pakistani family. METHODS AND
resultsMutations of GJB2 and all other genes reported to underlie recessive deafness were ruled out as the cause of the phenotype in the affected members of the participating family. Homozygosity mapping with a dense array of one million SNP markers allowed us to map the gene for recessively inherited severe hearing loss to chromosome 7q31.2, defining a new deafness locus designated DFNB97 (maximum logarithm of the odds score of 4.8). Whole-exome sequencing revealed a novel missense mutation c.2521T>G (p.F841V) in MET (mesenchymal epithelial transition factor), which encodes the receptor for hepatocyte growth factor. The mutation cosegregated with the hearing loss phenotype in the family and was absent from 800 chromosomes of ethnically matched control individuals as well as from 136 602 chromosomes in public databases of nucleotide variants. Analyses by multiple prediction programmes indicated that p.F841V likely damages MET function.
conclusionsWe identified a missense mutation of MET, encoding the hepatocyte growth factor receptor, as a likely cause of hearing loss in humans.
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Registered trials
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.