ArticleAmerican journal of human genetics2010
Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.
Article in American journal of human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 59 citations in OpenAlex.
- Taperin bundles F-actin at stereocilia pivot points enabling optimal lifelong mechanosensitivity.The Journal of cell biology · 2025Article
- Whole-genome resequencing reveals new mutations in candidate genes for Beichuan-white goat prolificacya.Animal biotechnology · 2024Article
- The applications of CRISPR/Cas-mediated genome editing in genetic hearing loss.Cell & bioscience · 2023Review
- RIPOR2-mediated autophagy dysfunction is critical for aminoglycoside-induced hearing loss.Developmental cell · 2022Article
- Reducing Taperin Expression Restores Hearing in Grxcr2 Mutant Mice.Neuroscience · 2022Article
- Deafness-related protein PDZD7 forms complex with the C-terminal tail of FCHSD2.The Biochemical journal · 2022Article
- A combined genome-wide association and molecular study of age-related hearing loss in H. sapiens.BMC medicine · 2021Article
- Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing loss.Hearing research · 2020Article
- High Levels of Genetic Diversity within Nilo-Saharan Populations: Implications for Human Adaptation.American journal of human genetics · 2020Article
- Tprn is essential for the integrity of stereociliary rootlet in cochlear hair cells in mice.Frontiers of medicine · 2019Article
- Gene expression vs. sequence divergence: comparative transcriptome sequencing among naturalFrontiers in zoology · 2019Article
- The Effect of Genetic Variation on the Placental Transcriptome in Humans.Frontiers in genetics · 2019Article
- GRXCR2 Regulates Taperin Localization Critical for Stereocilia Morphology and Hearing.Cell reports · 2018Article
- Mutation ofJournal of medical genetics · 2018Article
- Harnessing molecular motors for nanoscale pulldown in live cells.Molecular biology of the cell · 2017Article
- Article
- EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss.Orphanet journal of rare diseases · 2015Article
- New treatment options for hearing loss.Nature reviews. Drug discovery · 2015Review
- Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees.PloS one · 2015Article
- Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family.PloS one · 2015Article
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Authors and funding
16 authors at 5 institutions in 3 countries.
Funding
Abstract
We performed genome-wide homozygosity mapping in a large consanguineous family from Morocco and mapped the autosomal-recessive nonsyndromic hearing loss (ARNSHL) in this family to the DFNB79 locus on chromosome 9q34. By sequencing of 62 positional candidate genes of the critical region, we identified a causative homozygous 11 bp deletion, c.42_52del, in the TPRN gene in all seven affected individuals. The deletion is located in exon 1 and results in a frameshift and premature protein truncation (p.Gly15AlafsX150). Interestingly, the deleted sequence is part of a repetitive and CG-rich motive predicted to be prone to structural aberrations during crossover formation. We identified another family with progressive ARNSHL linked to this locus, whose affected members were shown to carry a causative 1 bp deletion (c.1347delG) in exon 1 of TPRN. The function of the encoded protein, taperin, is unknown; yet, partial homology to the actin-caping protein phostensin suggests a role in actin dynamics.
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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.