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

Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.
 

Author(s): Christina M Sloan-Heggen, Mojgan Babanejad, Maryam Beheshtian, Allen C Simpson, Kevin T Booth, Fariba Ardalani, Kathy L Frees, Marzieh Mohseni, Reza Mozafari, Zohreh Mehrjoo, Leila Jamali, Saeideh Vaziri, Tara Akhtarkhavari, Niloofar Bazazzadegan, Nooshin Nikzat, Sanaz Arzhangi, Farahnaz Sabbagh, Hasan Otukesh, Seyed Morteza Seifati, Hossein Khodaei, Maryam Taghdiri, Nicole C Meyer, Ahmad Daneshi, Mohammad Farhadi, Kimia Kahrizi, Richard J H Smith, Hela Azaiez, Hossein Najmabadi

Journal: J. Med. Genet.. 2015 Dec;52(12):823-9.

 

Countries with culturally accepted consanguinity provide a unique resource for the study of rare recessively inherited genetic diseases. Although hereditary hearing loss (HHL) is not uncommon, it is genetically heterogeneous, with over 85 genes causally implicated in non-syndromic ...

Last Updated: 25 Nov 2015

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Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population.
 

Author(s): Mirei Taniguchi, Hirotaka Matsuo, Seiko Shimizu, Akiyoshi Nakayama, Koji Suzuki, Nobuyuki Hamajima, Nariyoshi Shinomiya, Shinya Nishio, Shinji Kosugi, Shin-Ichi Usami, Juichi Ito, Shin-ichiro Kitajiri

Journal: J. Hum. Genet.. 2015 Oct;60(10):613-7.

 

Hearing impairment is one of the most common sensory disorders that affect ~1 in 1000 children, and half of them are considered to be hereditary. Information about the carrier frequencies of mutations that underlie autosomal recessive disorders is indispensable for accurate genetic ...

Last Updated: 27 Oct 2015

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Development of the stria vascularis and potassium regulation in the human fetal cochlea: Insights into hereditary sensorineural hearing loss.
 

Author(s): Heiko Locher, John C M J de Groot, Liesbeth van Iperen, Margriet A Huisman, Johan H M Frijns, Susana M Chuva de Sousa Lopes

Journal: Dev Neurobiol. 2015 Nov;75(11):1219-40.

 

Sensorineural hearing loss (SNHL) is one of the most common congenital disorders in humans, afflicting one in every thousand newborns. The majority is of heritable origin and can be divided in syndromic and nonsyndromic forms. Knowledge of the expression profile of affected genes ...

Last Updated: 11 Oct 2015

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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:

Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.
 

Author(s): Maryam Beheshtian, Mojgan Babanejad, Hela Azaiez, Niloofar Bazazzadegan, Diana Kolbe, Christina Sloan-Heggen, Sanaz Arzhangi, Kevin Booth, Marzieh Mohseni, Kathy Frees, Mohammad Hossein Azizi, Ahmad Daneshi, Mohammad Farhadi, Kimia Kahrizi, Richard Jh Smith, Hossein Najmabadi

Journal: Arch Iran Med. 2016 Oct;19(10):720-728.

 

A significant contribution to the causes of hereditary hearing impairment comes from genetic factors. More than 120 genes and 160 loci have been identified to be involved in hearing impairment. Given that consanguine populations are more vulnerable to most inherited diseases, such ...

Last Updated: 15 Oct 2016

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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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Whole-exome sequencing and its impact in hereditary hearing loss.
 

Author(s): Tahir Atik, Guney Bademci, Oscar Diaz-Horta, Susan H Blanton, Mustafa Tekin

Journal:

 

Next-generation sequencing (NGS) technologies have played a central role in the genetic revolution. These technologies, especially whole-exome sequencing, have become the primary tool of geneticists to identify the causative DNA variants in Mendelian disorders, including hereditary ...

Last Updated: 31 Mar 2015

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Symptoms, Diagnosis, and Treatment

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

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

Status: Recruiting

Condition Summary: Hearing Disorder

 

Last Updated: 30 Jun 2017

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Genetic Analysis of Hereditary Disorders of Hearing and Balance
 

Status: Recruiting

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

 

Last Updated: 30 Jun 2017

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North Carolina Newborn Exome Sequencing for Universal Screening
 

Status: Recruiting

Condition Summary: Metabolism, Inborn Errors; Hearing Loss; Hereditary Disease

 

Last Updated: 7 Jul 2016

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