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Functional Otogenetics
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Functional Otogenetics

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (10 December 2022) | Viewed by 6724

Special Issue Editors

Dr. Vedat Topsakal

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Guest Editor
Department of Otorhinolaryngology Head and Neck Surgery, Universitair Ziekenhuis Brussel-Vrije Universiteit Brussel, 1090 Jette, Brussels Health Campus, Brussels, Belgium
Interests: sensorineural hearing loss; deafness; hereditary hearing impairment; genetic deafness; otogenetics; functional genetics; genotype-phenotype correlation studies; translational genetics; gene-therapy
Special Issues, Collections and Topics in MDPI journals
Dr. Ronald J.E. Pennings

E-Mail Website
Guest Editor
Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, Nijmegen, The Netherlands
Interests: Deafness; Hearing Disorders; Hearing Loss; Genetics; Otology; Audiology; Cochlea; Audiometry; Otolaryngology; Inner ear
Dr. Cris Lanting

E-Mail Website
Guest Editor Assistant
Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Philips van Leijdenlaan 15, 6525 EX Nijmegen, The Netherlands
Interests: audiology; auditory diagnostics; cochlear implants; middle ear implants; hereditary hearing loss; tinnitus; neuroimaging

Special Issue Information

After the popularisation of clinical audiometry, otologists were able to separate different types of sensorineural hearing loss. This opened the door for linkage analyses in collaboration with genetic laboratories and many (though initially mostly dominant) traits were identified with Sanger sequencing. Genetic analyses became more efficient and more available (cheaper) with the development of population genetics, gene panels, next-genome screening and eventually whole-genome sequencing. Progressively, a gap between scientific knowledge on genetic deafness and the clinical application of that knowledge occurred. A handful of clinical scientists tried to bridge this gap by emphasising the importance of genotype phenotype correlations studies. These could become tools for clinicians for faster diagnosis and geneticists could be motivated to screen for clinical suspected diagnoses using their expensive laboratory tests.

Today, genetic analyses are readily available and so powerful that some would dare to perform otogenetic screenings prior to proper clinical evaluation of hearing thresholds. However, genetic analyses frequently find anomalies or variants which are difficult to classify as pathogenic, or not. For the clinical otologist caring for patients with sensorineural hearing loss on a daily basis, it is not possible to keep up with all new findings in the genetics of otology—let along the new laboratory techniques to screen genes. Even a clinical therapeutic modality, such gene therapy for hereditary hearing loss, is not easy for a mainly clinically occupied otologist to grasp.

 

Translational studies concerning genetic knowledge implemented in daily practice are welcomed. We also hope to address the following questions: What do genes tell clinicians on how or when to operate or not to operate? Should clinicians anticipate the presence of gene therapy in the near future? All topics that are functional for clinicians and tackle genetics and otology are welcome for this issue on functional otogenetics.

Dr. Vedat Topsakal
Dr. Ronald J.E. Pennings
Guest Editors

Dr. Cris Lanting
Guest Editor Assistant

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Otogenetics
  • Genetic deafness
  • Hearing impairment
  • Hereditary hearing loss
  • Genetic analyses on sensorineural hearing loss

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Published Papers (3 papers)

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Research

13 pages, 4490 KiB  
Article
Evaluation of a Less Invasive Cochlear Implant Surgery in OPA1 Mutations Provoking Deafblindness
by Ahmet M. Tekin, Hermine Baelen, Emilie Heuninck, Yıldırım A. Bayazıt, Griet Mertens, Vincent van Rompaey, Paul van de Heyning and Vedat Topsakal
Genes 2023, 14(3), 627; https://doi.org/10.3390/genes14030627 - 2 Mar 2023
Cited by 1 | Viewed by 2324
Abstract
Cochlear implantation (CI) for deafblindness may have more impact than for non-syndromic hearing loss. Deafblind patients have a double handicap in a society that is more and more empowered by fast communication. CI is a remedy for deafness, but requires revision surgery every [...] Read more.
Cochlear implantation (CI) for deafblindness may have more impact than for non-syndromic hearing loss. Deafblind patients have a double handicap in a society that is more and more empowered by fast communication. CI is a remedy for deafness, but requires revision surgery every 20 to 25 years, and thus placement should be minimally invasive. Furthermore, failed reimplantation surgery will have more impact on a deafblind person. In this context, we assessed the safety of minimally invasive robotically assisted cochlear implant surgery (RACIS) for the first time in a deafblind patient. Standard pure tone audiometry and speech audiometry were performed in a patient with deafblindness as part of this robotic-assisted CI study before and after surgery. This patient, with an optic atrophy 1 (OPA1) (OMIM#165500) mutation consented to RACIS for the second (contralateral) CI. The applicability and safety of RACIS were evaluated as well as her subjective opinion on her disability. RACIS was uneventful with successful surgical and auditory outcomes in this case of deafblindness due to the OPA1 mutation. RACIS appears to be a safe and beneficial intervention to increase communication skills in the cases of deafblindness due to an OPA1 mutation. The use of RACIS use should be widespread in deafblindness as it minimizes surgical trauma and possible failures. Full article
(This article belongs to the Special Issue Functional Otogenetics)
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14 pages, 1222 KiB  
Article
Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38
by Hedwig M. Velde, Xanne J. J. Huizenga, Helger G. Yntema, Lonneke Haer-Wigman, Andy J. Beynon, Jaap Oostrik, Sjoert A. H. Pegge, Hannie Kremer, Cris P. Lanting and Ronald J. E. Pennings
Genes 2023, 14(2), 457; https://doi.org/10.3390/genes14020457 - 10 Feb 2023
Cited by 7 | Viewed by 2135
Abstract
The aim of this study is to contribute to a better description of the genotypic and phenotypic spectrum of DFNA6/14/38 and aid in counseling future patients identified with this variant. Therefore, we describe the genotype and phenotype in a large Dutch–German family (W21-1472) [...] Read more.
The aim of this study is to contribute to a better description of the genotypic and phenotypic spectrum of DFNA6/14/38 and aid in counseling future patients identified with this variant. Therefore, we describe the genotype and phenotype in a large Dutch–German family (W21-1472) with autosomal dominant non-syndromic, low-frequency sensorineural hearing loss (LFSNHL). Exome sequencing and targeted analysis of a hearing impairment gene panel were used to genetically screen the proband. Co-segregation of the identified variant with hearing loss was assessed by Sanger sequencing. The phenotypic evaluation consisted of anamnesis, clinical questionnaires, physical examination and examination of audiovestibular function. A novel likely pathogenic WFS1 variant (NM_006005.3:c.2512C>T p.(Pro838Ser)) was identified in the proband and found to co-segregate with LFSNHL, characteristic of DFNA6/14/38, in this family. The self-reported age of onset of hearing loss (HL) ranged from congenital to 50 years of age. In the young subjects, HL was demonstrated in early childhood. At all ages, an LFSNHL (0.25–2 kHz) of about 50–60 decibel hearing level (dB HL) was observed. HL in the higher frequencies showed inter-individual variability. The dizziness handicap inventory (DHI) was completed by eight affected subjects and indicated a moderate handicap in two of them (aged 77 and 70). Vestibular examinations (n = 4) showed abnormalities, particularly in otolith function. In conclusion, we identified a novel WFS1 variant that co-segregates with DFNA6/14/38 in this family. We found indications of mild vestibular dysfunction, although it is uncertain whether this is related to the identified WFS1 variant or is an incidental finding. We would like to emphasize that conventional neonatal hearing screening programs are not sensitive to HL in DFNA6/14/38 patients, because high-frequency hearing thresholds are initially preserved. Therefore, we suggest screening newborns in DFNA6/14/38 families with more frequency-specific methods. Full article
(This article belongs to the Special Issue Functional Otogenetics)
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16 pages, 1270 KiB  
Article
Genetic Hearing Loss Affects Cochlear Processing
by Cris Lanting, Ad Snik, Joop Leijendeckers, Arjan Bosman and Ronald Pennings
Genes 2022, 13(11), 1923; https://doi.org/10.3390/genes13111923 - 22 Oct 2022
Viewed by 1410
Abstract
The relationship between speech recognition and hereditary hearing loss is not straightforward. Underlying genetic defects might determine an impaired cochlear processing of sound. We obtained data from nine groups of patients with a specific type of genetic hearing loss. For each group, the [...] Read more.
The relationship between speech recognition and hereditary hearing loss is not straightforward. Underlying genetic defects might determine an impaired cochlear processing of sound. We obtained data from nine groups of patients with a specific type of genetic hearing loss. For each group, the affected cochlear site-of-lesion was determined based on previously published animal studies. Retrospectively obtained speech recognition scores in noise were related to several aspects of supra-threshold cochlear processing as assessed by psychophysical measurements. The differences in speech perception in noise between these patient groups could be explained by these factors and partially by the hypothesized affected structure of the cochlea, suggesting that speech recognition in noise was associated with a genetics-related malfunctioning of the cochlea. In particular, regression models indicate that loudness growth and spectral resolution best describe the cochlear distortions and are thus a good biomarker for speech understanding in noise. Full article
(This article belongs to the Special Issue Functional Otogenetics)
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