Apparent homozygosity for a novel splicing variant in EPS8 causes congenital profound hearing loss

2021 ◽  
Vol 64 (12) ◽  
pp. 104362
Author(s):  
Sha Yu ◽  
Wen-xia Chen ◽  
Yun-Fei Zhang ◽  
Yihua Ni ◽  
Ping Lu ◽  
...  
2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Ashfaque Ahmed ◽  
Meng Wang ◽  
Rizwan Khan ◽  
Abid Ali Shah ◽  
Hui Guo ◽  
...  

Abstract Background Hearing loss/deafness is a common otological disorder found in the Pakistani population due to the high prevalence of consanguineous unions, but the full range of genetic causes is still unknown. Methods A large consanguineous Pakistani kindred with hearing loss was studied. Whole-exome sequencing and Sanger sequencing were performed to search for the candidate gene underlying the disease phenotype. A minigene assay and reverse transcription polymerase chain reaction was used to assess the effect of splicing variants. Results The splicing variants of OTOF (NM_194248, c.3289-1G>T) cosegregated with the disease phenotype in this Pakistani family. The substitution of a single base pair causes the deletion of 10 bp (splicing variant 1) or 13 bp (splicing variant 2) from exon 27, which results in truncated proteins of 1141 and 1140 amino acids, respectively. Conclusion Our findings reveal an OTOF splice-site variant as pathogenic for profound hearing loss in this family.


2020 ◽  
Author(s):  
ashfaque ahmed ◽  
Meng Wang ◽  
Rizwan Khan ◽  
Abid Ali Shah ◽  
Hui Guo ◽  
...  

Abstract Background: Hearing loss/deafness is a common otological disorder found in the Pakistani population due to the high prevalence of consanguineous unions, but the full range of genetic causes is still unknown.Methods: A large consanguineous Pakistani kindred with hearing loss was studied. Whole-exome sequencing and Sanger sequencing were performed to search for the candidate gene underlying the disease phenotype. A minigene assay and reverse transcription polymerase chain reaction were used to assess the effect of splicing variants.Results: The splicing variants of OTOF (NM_194248, c.3289-1G>T) cosegregated with the disease phenotype in this Pakistani family. The substitution of a single base pair causes the deletion of 10 bp (splicing variant 1) or 13 bp (splicing variant 2) from exon 27, which results in truncated proteins of 1141 and 1140 amino acids, respectively.Conclusion: Our findings reveal an OTOF splice-site variant as pathogenic for profound hearing loss in this family.


2010 ◽  
Vol 20 (1) ◽  
pp. 27-31
Author(s):  
Lyn Robertson

Abstract Learning to listen and speak are well-established preludes for reading, writing, and succeeding in mainstream educational settings. Intangibles beyond the ubiquitous test scores that typically serve as markers for progress in children with hearing loss are embedded in descriptions of the educational and social development of four young women. All were diagnosed with severe-to-profound or profound hearing loss as toddlers, and all were fitted with hearing aids and given listening and spoken language therapy. Compiling stories across the life span provides insights into what we can be doing in the lives of young children with hearing loss.


2021 ◽  
pp. 102986492110152
Author(s):  
Carl Hopkins ◽  
Saúl Maté-Cid ◽  
Robert Fulford ◽  
Gary Seiffert ◽  
Jane Ginsborg

This study investigated the perception and learning of relative pitch using vibrotactile stimuli by musicians with and without a hearing impairment. Notes from C3 to B4 were presented to the fingertip and forefoot. Pre- and post-training tests in which 420 pairs of notes were presented randomly were carried out without any feedback to participants. After the pre-training test, 16 short training sessions were carried out over six weeks with 72 pairs of notes per session and participants told whether their answers were correct. For amateur and professional musicians with normal hearing and professional musicians with a severe or profound hearing loss, larger pitch intervals were easier to identify correctly than smaller intervals. Musicians with normal hearing had a high success rate for relative pitch discrimination as shown by pre- and post-training tests, and when using the fingertips, there was no significant difference between amateur and professional musicians. After training, median scores on the tests in which stimuli were presented to the fingertip and forefoot were >70% for intervals of 3–12 semitones. Training sessions reduced the variability in the responses of amateur and professional musicians with normal hearing and improved their overall ability. There was no significant difference between the relative pitch discrimination abilities between one and 11 semitones, as shown by the pre-training test, of professional musicians with and without a severe/profound hearing loss. These findings indicate that there is potential for vibration to be used to facilitate group musical performance and music education in schools for the deaf.


2019 ◽  
Vol 23 ◽  
pp. 233121651988761 ◽  
Author(s):  
Gilles Courtois ◽  
Vincent Grimaldi ◽  
Hervé Lissek ◽  
Philippe Estoppey ◽  
Eleftheria Georganti

The auditory system allows the estimation of the distance to sound-emitting objects using multiple spatial cues. In virtual acoustics over headphones, a prerequisite to render auditory distance impression is sound externalization, which denotes the perception of synthesized stimuli outside of the head. Prior studies have found that listeners with mild-to-moderate hearing loss are able to perceive auditory distance and are sensitive to externalization. However, this ability may be degraded by certain factors, such as non-linear amplification in hearing aids or the use of a remote wireless microphone. In this study, 10 normal-hearing and 20 moderate-to-profound hearing-impaired listeners were instructed to estimate the distance of stimuli processed with different methods yielding various perceived auditory distances in the vicinity of the listeners. Two different configurations of non-linear amplification were implemented, and a novel feature aiming to restore a sense of distance in wireless microphone systems was tested. The results showed that the hearing-impaired listeners, even those with a profound hearing loss, were able to discriminate nearby and far sounds that were equalized in level. Their perception of auditory distance was however more contracted than in normal-hearing listeners. Non-linear amplification was found to distort the original spatial cues, but no adverse effect on the ratings of auditory distance was evident. Finally, it was shown that the novel feature was successful in allowing the hearing-impaired participants to perceive externalized sounds with wireless microphone systems.


2008 ◽  
Vol 19 (03) ◽  
pp. 267-274 ◽  
Author(s):  
David B. Hawkins

A case report is presented of a 62-year-old software product manager who had normal hearing in one ear and a congenital profound hearing loss in the other ear and then sustained a sudden sensorineural hearing loss in the only hearing ear. The approach to amplification decisions, cochlear implant evaluation, and rehabilitation options are discussed. Providing aural rehabilitation and continually updating and providing new amplification options and accessories are described. Se presenta un reporte de caso de un gerente de productos de software de 62 años de edad quien tenía audición normal en un oído y un sordera congénita profunda en el otro, y quién súbitamente sufrió una sordera sensorineural súbita en el único oído con audición. Se discute el enfoque de decisiones de amplificación, la evaluación para implante coclear, y las opciones de rehabilitación. Se describen las pautas para proveer rehabilitación aural y para actualizar continuamente y aportar nuevas opciones de amplificación.


2007 ◽  
Vol 116 (6) ◽  
pp. 407-410 ◽  
Author(s):  
Roberto Bovo ◽  
Rocco Ortore ◽  
Andrea Ciorba ◽  
Anna Berto ◽  
Alessandro Martini

2009 ◽  
Vol 34 (4) ◽  
pp. 374-376 ◽  
Author(s):  
R. Birkenhäger ◽  
W. Maier ◽  
M. Kunze ◽  
A. Aschendorff ◽  
S. Arndt

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