Hereditary hearing loss

Common Name(s)

Hereditary hearing loss

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hereditary hearing loss" for support, advocacy or research.

Logo
Hands & Voices

Hands & Voices is dedicated to supporting families with children who are Deaf or Hard of Hearing without a bias around communication modes or methodology. We're a parent-driven, non-profit organization providing families with the resources, networks, and information they need to improve communication access and educational outcomes for their children. Our outreach activities, parent/professional collaboration, and advocacy efforts are focused on enabling Deaf and Hard-of-Hearing children to reach their highest potential.

Last Updated: 26 Mar 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hereditary hearing loss" for support, advocacy or research.

Logo
Hands & Voices

Hands & Voices is dedicated to supporting families with children who are Deaf or Hard of Hearing without a bias around communication modes or methodology. We're a parent-driven, non-profit organization providing families with the resources, networks, and information they need to improve communication access and educational outcomes for their children. Our outreach activities, parent/professional collaboration, and advocacy efforts are focused on enabling Deaf and Hard-of-Hearing children to reach their highest potential.

http://www.handsandvoices.org

Last Updated: 26 Mar 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hereditary hearing loss" returned 15 free, full-text research articles on human participants. First 3 results:

Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss.
 

Author(s): Giorgia Girotto, Khalid Abdulhadi, Annalisa Buniello, Diego Vozzi, Danilo Licastro, Angela d'Eustacchio, Dragana Vuckovic, Moza Khalifa Alkowari, Karen P Steel, Ramin Badii, Paolo Gasparini

Journal:

 

Nonsyndromic Hereditary Hearing Loss is a common disorder accounting for at least 60% of prelingual deafness. GJB2 gene mutations, GJB6 deletion, and the A1555G mitochondrial mutation play a major role worldwide in causing deafness, but there is a high degree of genetic heterogeneity ...

Last Updated: 6 Dec 2013

Go To URL
A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.
 

Author(s): Simon von Ameln, Geng Wang, Redouane Boulouiz, Mark A Rutherford, Geoffrey M Smith, Yun Li, Hans-Martin Pogoda, Gudrun Nürnberg, Barbara Stiller, Alexander E Volk, Guntram Borck, Jason S Hong, Richard J Goodyear, Omar Abidi, Peter Nürnberg, Kay Hofmann, Guy P Richardson, Matthias Hammerschmidt, Tobias Moser, Bernd Wollnik, Carla M Koehler, Michael A Teitell, Abdelhamid Barakat, Christian Kubisch

Journal: Am. J. Hum. Genet.. 2012 Nov;91(5):919-27.

 

A subset of nuclear-encoded RNAs has to be imported into mitochondria for the proper replication and transcription of the mitochondrial genome and, hence, for proper mitochondrial function. Polynucleotide phosphorylase (PNPase or PNPT1) is one of the very few components known to be ...

Last Updated: 5 Nov 2012

Go To URL
Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study.
 

Author(s): Shin-ichi Usami, Shin-ya Nishio, Makoto Nagano, Satoko Abe, Toshikazu Yamaguchi,

Journal: PLoS ONE. 2012 ;7(2):e31276.

 

Although etiological studies have shown genetic disorders to be a common cause of congenital/early-onset sensorineural hearing loss, there have been no detailed multicenter studies based on genetic testing. In the present report, 264 Japanese patients with bilateral sensorineural ...

Last Updated: 2 Mar 2012

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hereditary hearing loss" returned 6 free, full-text review articles on human participants. First 3 results:

[Hereditary hearing loss: genetic counselling].
 

Author(s): Rubén Cabanillas Farpón, Juan Cadiñanos Bañales

Journal: Acta Otorrinolaringol Esp. ;63(3):218-29.

 

The aim of this review is to provide an updated overview of hereditary hearing loss, with special attention to the etiological diagnosis of sensorineural hearing loss, the genes most frequently mutated in our environment, the techniques available for their analysis and the clinical ...

Last Updated: 14 May 2012

Go To URL
Mouse models to study inner ear development and hereditary hearing loss.
 

Author(s): Lilach M Friedman, Amiel A Dror, Karen B Avraham

Journal: Int. J. Dev. Biol.. 2007 ;51(6-7):609-31.

 

Hereditary sensorineural hearing loss, derived from inner ear defects, is the most common hereditary disability with a prevalence of 1 in 1,000 children, although it can be present in up to 15% of births in isolated communities. The mouse serves as an ideal animal model to identify ...

Last Updated: 24 Sep 2007

Go To URL
An overview of hereditary hearing loss.
 

Author(s): Yildirim A Bayazit, Metin Yilmaz

Journal: ORL J. Otorhinolaryngol. Relat. Spec.. 2006 ;68(2):57-63.

 

Understanding the genetic basis of hearing loss is important because almost 50% of profound hearing loss are caused by genetic factors and more than 120 independent genes have been identified. In this review, after a brief explanation of some genetic terms (allele, heterozygosis, ...

Last Updated: 14 Mar 2006

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Genetic Analysis of Hereditary Disorders of Hearing and Balance
 

Status: Recruiting

Condition Summary: Sensorineural Hearing Loss; Hearing Disorder; Vestibular Disease

 

Last Updated: 11 Oct 2014

Go to URL
Non-Syndrome Hereditary Hearing Impairment - Gene Mapping: India/Pakistan Protocol
 

Status: Recruiting

Condition Summary: Hearing Impairment

 

Last Updated: 26 Apr 2014

Go to URL
Clinical and Genetic Analysis of Enlarged Vestibular Aqueducts
 

Status: Recruiting

Condition Summary: Sensorineural Hearing Loss; Cytomegalovirus Infection

 

Last Updated: 25 Oct 2014

Go to URL