ArticleBMC medical genetics2017
Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss.
Article in BMC medical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- Biological insights from multi-omic analysis of 31 genomic risk loci for adult hearing difficulty.PLoS genetics · 2020Pooled it
- NGS sequencing reveals the cause of hearing loss in a group of Polish patients with an isolated, non-DFNB1 hearing loss.Journal of applied genetics · 2026Article
- Analysis of clinical phenotypes and genotypes of congenital deafness caused by rare variants inFrontiers in pediatrics · 2025Article
- Article
- Unraveling the Genetic Basis of Combined Deafness and Male Infertility Phenotypes through High-Throughput Sequencing in a Unique Cohort from South India.Advanced genetics (Hoboken, N.J.) · 2024Article
- Alternative splicing in shaping the molecular landscape of the cochlea.Frontiers in cell and developmental biology · 2023Review
- Unbalanced bidirectional radial stiffness gradients within the organ of Corti promoted by TRIOBP.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores.Human genetics · 2022Review
- The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis.Communications biology · 2021Article
- Case Report: Novel Compound Heterozygous Variants inFrontiers in genetics · 2021Article
- Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next-generation sequencing.Journal of clinical laboratory analysis · 2020Article
- The TRIOBP Isoforms and Their Distinct Roles in Actin Stabilization, Deafness, Mental Illness, and Cancer.Molecules (Basel, Switzerland) · 2020Review
- A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family.BMC medical genetics · 2020Article
- TRIOBP-5 sculpts stereocilia rootlets and stiffens supporting cells enabling hearing.JCI insight · 2019Article
- A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing.BMC medical genetics · 2018Article
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Authors and funding
8 authors at 2 institutions in 1 country.
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Abstract
backgroundImplementation of whole exome sequencing has provided unique opportunity for a wide screening of causative variants in genetically heterogeneous diseases, including nonsyndromic hearing impairment. TRIOBP in the inner ear is responsible for proper structure and function of stereocilia and is necessary for sound transduction.
methodsWhole exome sequencing followed by Sanger sequencing was conducted on patients derived from Polish hearing loss family.
resultsBased on whole exome analysis, we identified two TRIOBP pathogenic variants (c.802_805delCAGG, p.Gln268Leufs*610 and c.5014G>T, p.Gly1672*, the first of which was novel) causative of nonsyndromic, peri- to postlingual, moderate-to-severe hearing loss in three siblings from a Polish family. Typically, TRIOBP pathogenic variants lead to prelingual, severe-to-profound hearing loss, thus the onset and degree of hearing impairment in our patients represent a distinct phenotypic manifestation caused by TRIOBP variants. The pathogenic variant p.Gln268Leufs*610 disrupts the TRIOBP-4 and TRIOBP-5 isoforms (both expressed exclusively in the inner ear and retina) whereas the second pathogenic variant c.514G>T, p.Gly1672* affects only TRIOBP-5.
conclusionsThe onset and degree of hearing impairment, characteristic for our patients, represent a unique phenotypic manifestation caused by TRIOBP pathogenic variants. Although TRIOBP alterations are not a frequent cause of hearing impairment, this gene should be thoroughly analyzed especially in patients with a postlingual hearing loss. A delayed onset of hearing impairment due to TRIOBP pathogenic variants creates a potential therapeutic window for future targeted therapies.
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