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Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss

Overview of attention for article published in BMC Medical Genomics, December 2017
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Title
Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss
Published in
BMC Medical Genomics, December 2017
DOI 10.1186/s12881-017-0499-z
Pubmed ID
Authors

Agnieszka Pollak, Urszula Lechowicz, Victor Abel Murcia Pieńkowski, Piotr Stawiński, Joanna Kosińska, Henryk Skarżyński, Monika Ołdak, Rafał Płoski

Abstract

Implementation 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. Whole exome sequencing followed by Sanger sequencing was conducted on patients derived from Polish hearing loss family. Based 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. The 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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Mendeley readers

The data shown below were compiled from readership statistics for 25 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 25 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 5 20%
Student > Master 4 16%
Student > Ph. D. Student 3 12%
Other 2 8%
Professor 1 4%
Other 2 8%
Unknown 8 32%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 3 12%
Agricultural and Biological Sciences 2 8%
Medicine and Dentistry 2 8%
Engineering 2 8%
Neuroscience 2 8%
Other 3 12%
Unknown 11 44%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 05 December 2017.
All research outputs
#22,764,772
of 25,382,440 outputs
Outputs from BMC Medical Genomics
#2,010
of 2,444 outputs
Outputs of similar age
#384,414
of 444,857 outputs
Outputs of similar age from BMC Medical Genomics
#37
of 43 outputs
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