ArticleHuman mutation2014
A frameshift mutation in GRXCR2 causes recessively inherited hearing loss.
Article in Human mutation, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
28 citing papers in PubMed, 45 citations in OpenAlex.
- Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.Journal of cellular and molecular medicine · 2024Review
- Critical role of TPRN rings in the stereocilia for hearing.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Deafness gene screening based on a multilevel cascaded BPNN model.BMC bioinformatics · 2023Article
- RIPOR2-mediated autophagy dysfunction is critical for aminoglycoside-induced hearing loss.Developmental cell · 2022Article
- ARNSHL gene identification: past, present and future.Molecular genetics and genomics : MGG · 2022Review
- Reducing Taperin Expression Restores Hearing in Grxcr2 Mutant Mice.Neuroscience · 2022Article
- Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores.Human genetics · 2022Review
- Whole exome sequencing reveals a biallelic frameshift mutation in GRXCR2 in hearing impairment in Cameroon.Molecular genetics & genomic medicine · 2021Article
- Murine GRXCR1 Has a Different Function Than GRXCR2 in the Morphogenesis of Stereocilia.Frontiers in cellular neuroscience · 2021Article
- N-Terminus of GRXCR2 Interacts With CLIC5 and Is Essential for Auditory Perception.Frontiers in cell and developmental biology · 2021Article
- Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing loss.Hearing research · 2020Article
- Clinical and genetic study of 12 Chinese Han families with nonsyndromic deafness.Molecular genetics & genomic medicine · 2020Article
- Genetic Hearing Loss and Gene Therapy.Genomics & informatics · 2018Article
- GRXCR2 Regulates Taperin Localization Critical for Stereocilia Morphology and Hearing.Cell reports · 2018Article
- Transcriptomes of cochlear inner and outer hair cells from adult mice.Scientific data · 2018Article
- Article
- Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population.Scientific reports · 2017Article
- Genetic causes of moderate to severe hearing loss point to modifiers.Clinical genetics · 2017Article
- Genetics of Nonsyndromic Congenital Hearing Loss.Scientifica · 2016Review
- Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss.American journal of medical genetics. Part A · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
Abstract
More than 360 million humans are affected with some degree of hearing loss, either early or later in life. A genetic cause for the disorder is present in a majority of the cases. We mapped a locus (DFNB101) for hearing loss in humans to chromosome 5q in a consanguineous Pakistani family. Exome sequencing revealed an insertion mutation in GRXCR2 as the cause of moderate-to-severe and likely progressive hearing loss in the affected individuals of the family. The frameshift mutation is predicted to affect a conserved, cysteine-rich region of GRXCR2, and to result in an abnormal extension of the C-terminus. Functional studies by cell transfections demonstrated that the mutant protein is unstable and mislocalized relative to wild-type GRXCR2, consistent with a loss-of-function mutation. Targeted disruption of Grxcr2 is concurrently reported to cause hearing loss in mice. The structural abnormalities in this animal model suggest a role for GRXCR2 in the development of stereocilia bundles, specialized structures on the apical surface of sensory cells in the cochlea that are critical for sound detection. Our results indicate that GRXCR2 should be considered in differential genetic diagnosis for individuals with early onset, moderate-to-severe and progressive hearing loss.
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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.