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.

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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

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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

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General Support Organizations

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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 19 free, full-text research articles on human participants. First 3 results:

Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss.
 

Author(s): Rajini R Haraksingh, Fereshteh Jahanbani, Juan Rodriguez-Paris, Joel Gelernter, Kari C Nadeau, John S Oghalai, Iris Schrijver, Michael P Snyder

Journal:

 

The genetic diversity of loci and mutations underlying hereditary hearing loss is an active area of investigation. To identify loci associated with predominantly non-syndromic sensorineural hearing loss, we performed exome sequencing of families and of single probands, as well as ...

Last Updated: 17 Jan 2015

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Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.
 

Author(s): Qinjun Wei, Hongmei Zhu, Xuli Qian, Zhibin Chen, Jun Yao, Yajie Lu, Xin Cao, Guangqian Xing

Journal:

 

Hereditary hearing loss is genetically heterogeneous, and hundreds of mutations in than 60 genes are involved in this disease. Therefore, it is difficult to identify the causative gene mutations involved. In this study, we combined targeted genomic capture and massively parallel sequencing ...

Last Updated: 27 Apr 2015

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A DFNA5 mutation identified in Japanese families with autosomal dominant hereditary hearing loss.
 

Author(s): Ayako Nishio, Yoshihiro Noguchi, Tatsuya Sato, Taeko K Naruse, Akinori Kimura, Akira Takagi, Ken Kitamura

Journal: Ann. Hum. Genet.. 2014 Mar;78(2):83-91.

 

Mutations in DFNA5 lead to autosomal dominant nonsyndromic hereditary hearing loss (NSHHL). To date, four different mutations in DFNA5 have been reported to cause hearing loss. A 3 bp deletion mutation (c.991-15_991-13del) was identified in Chinese and Korean families with autosomal ...

Last Updated: 27 Feb 2014

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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 7 free, full-text review articles on human participants. First 3 results:

Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.
 

Author(s): Ya-Jie Lu, Jun Yao, Qin-Jun Wei, Guang-Qian Xing, Xin Cao

Journal: Medicine (Baltimore). 2015 Dec;94(50):e2248.

 

Many SLC26A4 mutations have been identified in patients with nonsyndromic enlarged vestibular aqueduct (EVA). However, the roles of SLC26A4 genotypes and phenotypes in hereditary deafness remain unexplained. This study aims to perform a meta-analysis based on the PRISMA statement ...

Last Updated: 19 Dec 2015

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[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

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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

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

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

 
 
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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: 15 Jan 2016

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

Status: Recruiting

Condition Summary: Hearing Disorder

 

Last Updated: 19 Mar 2016

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Biomarker for Patient With Alport Disease or Highly Suspected for Alport Disease
 

Status: Recruiting

Condition Summary: Nephritis, Hereditary; Alport Syndrome; Alport Syndrome, Autosomal Dominant; Alport Syndrome, Autosomal Recessive; Hematuria-Nephropathy-Deafness Syndrome

 

Last Updated: 18 Mar 2016

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