Non-syndromic, autosomal-recessive deafness

Clinical Genetics
M Petersen, P J Willems

Abstract

Non-syndromic deafness is a paradigm of genetic heterogeneity with 85 loci and 39 nuclear disease genes reported so far. Autosomal-recessive genes are responsible for about 80% of the cases of hereditary non-syndromic deafness of pre-lingual onset with 23 different genes identified to date. In the present article, we review these 23 genes, their function, and their contribution to genetic deafness in different populations. The wide range of functions of these DFNB genes reflects the heterogeneity of the genes involved in hearing and hearing loss. Several of these genes are involved in both recessive and dominant deafness, or in both non-syndromic and syndromic deafness. Mutations in the GJB2 gene encoding connexin 26 are responsible for as much as 50% of pre-lingual, recessive deafness. By contrast, mutations in most of the other DFNB genes have so far been detected in only a small number of families, and their contribution to deafness on a population scale might therefore be limited. Identification of all genes involved in hereditary hearing loss will help in our understanding of the basic mechanisms underlying normal hearing, in early diagnosis and therapy.

References

Aug 1, 1990·The Journal of Cell Biology·G I FishmanL A Leinwand
Jan 1, 1991·Annals of the New York Academy of Sciences·N E Morton
May 18, 1995·The New England Journal of Medicine·S H Britz-CunninghamW H Fletcher
Jun 15, 1993·American Journal of Medical Genetics·M L MarazitaW E Nance
Jan 1, 1993·Cytogenetics and Cell Genetics·I A CorcosR Loch-Caruso
Jan 9, 1996·Proceedings of the National Academy of Sciences of the United States of America·K Chang, I Pastan
Feb 9, 1996·Cell·N M Kumar, N B Gilula
Apr 16, 1996·Proceedings of the National Academy of Sciences of the United States of America·D WeilC Petit
Oct 1, 1996·Human Molecular Genetics·S WayneR J Smith
Sep 5, 1997·American Journal of Medical Genetics·A ChenR J Smith
Oct 23, 1997·Human Molecular Genetics·F DenoyelleC Petit
Oct 23, 1997·American Journal of Human Genetics·M R BrownR J Smith
Feb 21, 1998·The New England Journal of Medicine·G W BrobbyR D Horstmann
Mar 21, 1998·Nature Genetics·X C LiE R Wilcox
Jun 13, 1998·American Journal of Human Genetics·P M KelleyW J Kimberling

❮ Previous
Next ❯

Citations

Jan 11, 2007·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·E KalayH Kremer
Oct 15, 2008·Pflügers Archiv : European journal of physiology·Eliana ScemesPaolo Meda
Oct 27, 2006·Human Genetics·Shahid Y KhanSheikh Riazuddin
Jul 26, 2011·Journal of the Association for Research in Otolaryngology : JARO·Nicole J D WeegerinkHenricus P M Kunst
Sep 4, 2009·Journal of Assisted Reproduction and Genetics·Gheona AltarescuPaul Renbaum
Nov 27, 2009·Expert Reviews in Molecular Medicine·Jack R Lee, Thomas W White
Aug 27, 2010·Journal of Human Genetics·Lilya U DzhemilevaElza K Khusnutdinova
Sep 1, 2009·Genetic Testing and Molecular Biomarkers·Mortaza BonyadiAlireza Lotfi
Nov 26, 2009·Genetic Testing and Molecular Biomarkers·Mohammed H Al-QahtaniAshraf Dallol
Feb 23, 2011·Human Gene Therapy·Hong SunShousong Cao
Apr 16, 2009·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Brandon L PierceMelissa A Austin
Oct 16, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Julie C SappLeslie G Biesecker
Sep 18, 2008·Current Opinion in Otolaryngology & Head and Neck Surgery·Liping Nie
Dec 14, 2011·Current Opinion in Neurology·Lawrence R Lustig, Omar Akil
Jul 31, 2007·Journal of Medical Genetics·T D MatosG Fialho
Feb 9, 2008·Audiology & Neuro-otology·Jing ZouPentti Tuohimaa
Jun 9, 2012·BMC Genomics·TuShun R PowersElba E Serrano
Feb 2, 2010·BMC Physiology·Daisuke YamauchiDaniel C Marcus
Feb 4, 2010·PLoS Biology·Samuel P DicksonDavid B Goldstein
Feb 8, 2011·Molecular Medicine·Soo-Young ChoiUn-Kyung Kim
Nov 20, 2012·Indian Journal of Human Genetics·Zafar AliSajjad Ali Shah
Mar 5, 2014·The Journal of Clinical Investigation·Kazusaku KamiyaKatsuhisa Ikeda
Feb 15, 2014·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Juyong ChungByung Yoon Choi
Nov 22, 2007·Human Genetics·Angeles MencíaMiguel Angel Moreno-Pelayo
Sep 13, 2014·European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery·Christopher BeckGerd Schmitz
Jun 12, 2013·International Journal of Pediatric Otorhinolaryngology·T VoloA Martini
Feb 26, 2013·International Journal of Pediatric Otorhinolaryngology·Mediha TrabelsiRidha Mrad
Nov 13, 2012·International Journal of Pediatric Otorhinolaryngology·Daniz KooshavarMorteza Hashemzadeh-Chaleshtori
Feb 11, 2012·International Journal of Pediatric Otorhinolaryngology·Michael B PetersenHaris Kokotas
Nov 11, 2011·International Journal of Pediatric Otorhinolaryngology·Luminiţa RădulescuRoland Laszig
Jul 20, 2010·Anales de pediatría : publicación oficial de la Asociación Española de Pediatría (A.E.P.)·O Rubio-CabezasJ Argente
Aug 17, 2010·International Journal of Pediatric Otorhinolaryngology·Rita TeekKatrin Ounap
Mar 4, 2009·Biochemical and Biophysical Research Communications·Hanen BelguithSaber Masmoudi
Dec 23, 2008·European Journal of Medical Genetics·Delphine FeldmannFlorence Fellmann

❮ Previous
Next ❯

Related Concepts

Related Feeds

Auditory Perception

Auditory perception is the ability to receive and interpret information attained by the ears. Here is the latest research on factors and underlying mechanisms that influence auditory perception.

Related Papers

International Journal of Pediatric Otorhinolaryngology
Andreas PampanosM B Petersen
Genetics in Medicine : Official Journal of the American College of Medical Genetics
Aileen KennesonColeen Boyle
American Journal of Human Genetics
Rikkert L SnoeckxG Van Camp
© 2022 Meta ULC. All rights reserved