Literature DB >> 29984802

Genes important for otoneurological diagnostic purposes - current status and future prospects.

K Pawlak-Osiñska1, K Linkowska2, T Grzybowski2.   

Abstract

SUMMARY: This review focuses on the current knowledge of the genes responsible for non-syndromic hearing loss that can be useful for otoneurological diagnostic purposes. From among a large number of genes that have been associated with non-syndromic hearing impairment, we selected several best-known genes, including the COCH gene, GJB2, GJB6 and SLC26A4, and we describe their role and effects of mutations and prevalence of mutations in various populations. Next, we focus on genes associated with tinnitus. Important areas for further research include assessment of genes potentially involved in pathophysiology of tinnitus and vertigo, which have traditionally been considered as being of otological aetiology, while advances in neuroimaging techniques have increasingly shifted studies toward neurological correlations.
Copyright © 2018 Società Italiana di Otorinolaringologia e Chirurgia Cervico-Facciale, Rome, Italy.

Entities:  

Keywords:  Epilepsy; Genetics; Hearing impairment; Tinnitus; Vertigo

Mesh:

Year:  2018        PMID: 29984802      PMCID: PMC6036948          DOI: 10.14639/0392-100X-1692

Source DB:  PubMed          Journal:  Acta Otorhinolaryngol Ital        ISSN: 0392-100X            Impact factor:   2.124


  66 in total

1.  A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.

Authors:  Y J de Kok; S J Bom; T M Brunt; M H Kemperman; E van Beusekom; S D van der Velde-Visser; N G Robertson; C C Morton; P L Huygen; W I Verhagen; H G Brunner; C W Cremers; F P Cremers
Journal:  Hum Mol Genet       Date:  1999-02       Impact factor: 6.150

2.  Novel mutations in the SLC26A4 gene.

Authors:  Micol Busi; Alessandro Castiglione; Marina Taddei Masieri; Anna Ravani; Valeria Guaran; Laura Astolfi; Patrizia Trevisi; Alessandra Ferlini; Alessandro Martini
Journal:  Int J Pediatr Otorhinolaryngol       Date:  2012-06-18       Impact factor: 1.675

3.  A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation.

Authors:  E Fransen; M Verstreken; S J Bom; F Lemaire; M H Kemperman; Y J De Kok; F L Wuyts; W I Verhagen; P L Huygen; W T McGuirt; R J Smith; L V Van Maldergem; F Declau; C W Cremers; P H Van De Heyning; F P Cremers; G Van Camp
Journal:  J Med Genet       Date:  2001-01       Impact factor: 6.318

4.  Targeted disruption of mouse Coch provides functional evidence that DFNA9 hearing loss is not a COCH haploinsufficiency disorder.

Authors:  Tomoko Makishima; Clara I Rodriguez; Nahid G Robertson; Cynthia C Morton; Colin L Stewart; Andrew J Griffith
Journal:  Hum Genet       Date:  2005-10-28       Impact factor: 4.132

Review 5.  Genetics of chronic tinnitus.

Authors:  P G Sand; B Langguth; T Kleinjung; P Eichhammer
Journal:  Prog Brain Res       Date:  2007       Impact factor: 2.453

Review 6.  Navigating the channels and beyond: unravelling the genetics of the epilepsies.

Authors:  Ingo Helbig; Ingrid E Scheffer; John C Mulley; Samuel F Berkovic
Journal:  Lancet Neurol       Date:  2008-03       Impact factor: 44.182

7.  Sequencing of GJB2 in Cameroonians and Black South Africans and comparison to 1000 Genomes Project Data Support Need to Revise Strategy for Discovery of Nonsyndromic Deafness Genes in Africans.

Authors:  Jason Bosch; Jean Jacques N Noubiap; Collet Dandara; Nomlindo Makubalo; Galen Wright; Jean-Baka Domelevo Entfellner; Nicki Tiffin; Ambroise Wonkam
Journal:  OMICS       Date:  2014-08-27

8.  GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss.

Authors:  Jing Zheng; Zhengbiao Ying; Zhaoyang Cai; Dongmei Sun; Zheyun He; Yinglong Gao; Ting Zhang; Yi Zhu; Ye Chen; Min-Xin Guan
Journal:  PLoS One       Date:  2015-06-04       Impact factor: 3.240

9.  A comprehensive catalogue of the coding and non-coding transcripts of the human inner ear.

Authors:  Isabelle Schrauwen; Yehudit Hasin-Brumshtein; Jason J Corneveaux; Jeffrey Ohmen; Cory White; April N Allen; Aldons J Lusis; Guy Van Camp; Matthew J Huentelman; Rick A Friedman
Journal:  Hear Res       Date:  2015-09-01       Impact factor: 3.208

10.  Cortical activity in tinnitus patients and its modification by phonostimulation.

Authors:  Katarzyna Pawlak-Osińska; Wojciech Kaźmierczak; Henryk Kaźmierczak; Małgorzata Wierzchowska; Izabela Matuszewska
Journal:  Clinics (Sao Paulo)       Date:  2013-04       Impact factor: 2.365

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