Hereditary Deafness

Common Name(s)

Hereditary Deafness

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

werathah

To provide support and health education to patients and their families with genetic and congenital disorders

Last Updated: 1 May 2013

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

werathah

To provide support and health education to patients and their families with genetic and congenital disorders

http://www.werathah.com

Last Updated: 1 May 2013

View Details

 

General Support Organizations

Not finding the support you need? Show 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 Deafness" returned 11 free, full-text research articles on human participants. First 3 results:

Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane.
 

Author(s): P Kevin Legan, Richard J Goodyear, Matías Morín, Angeles Mencia, Hilary Pollard, Leticia Olavarrieta, Julia Korchagina, Silvia Modamio-Hoybjor, Fernando Mayo, Felipe Moreno, Miguel-Angel Moreno-Pelayo, Guy P Richardson

Journal: Hum. Mol. Genet.. 2014 May;23(10):2551-68.

 

Tecta is a modular, non-collagenous protein of the tectorial membrane (TM), an extracellular matrix of the cochlea essential for normal hearing. Missense mutations in Tecta cause dominant forms of non-syndromic deafness and a genotype-phenotype correlation has been reported in humans, ...

Last Updated: 18 Apr 2014

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Challenges in whole exome sequencing: an example from hereditary deafness.
 

Author(s): Asli Sirmaci, Yvonne J K Edwards, Hatice Akay, Mustafa Tekin

Journal: PLoS ONE. 2012 ;7(2):e32000.

 

Whole exome sequencing provides unprecedented opportunities to identify causative DNA variants in rare Mendelian disorders. Finding the responsible mutation via traditional methods in families with hearing loss is difficult due to a high degree of genetic heterogeneity. In this study ...

Last Updated: 24 Feb 2012

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Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.
 

Author(s): Jae Yeol Lee, Sung-Il In, Hyon J Kim, Seon-Yong Jeong, Yun Hoon Choung, You Chan Kim

Journal: J. Korean Med. Sci.. 2010 Oct;25(10):1539-42.

 

Gap junctions, which mediate rapid intercellular communication, consist of connexins, small transmembrane proteins that belong to a large family of proteins found throughout the species. Mutations in the GJB2 gene, encoding Connexin 26, can cause nonsyndromic autosomal recessive or ...

Last Updated: 4 Oct 2010

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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 Deafness" returned 2 free, full-text review articles on human participants. First 3 results:

Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome).
 

Author(s): Julie Desir, Marc Abramowicz

Journal:

 

Harboyan syndrome is a degenerative corneal disorder defined as congenital hereditary endothelial dystrophy (CHED) accompanied by progressive, postlingual sensorineural hearing loss. To date, 24 cases from 11 families of various origin (Asian Indian, South American Indian, Sephardi ...

Last Updated: 30 Oct 2008

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[Hereditary deafness: molecular genetics].
 

Author(s): Jean-Pierre Hardelin, Françoise Denoyelle, Jacqueline Levilliers, Marie-Christine Simmler, Christine Petit

Journal: Med Sci (Paris). 2004 Mar;20(3):311-6.

 

This article outlines recent advances in explaining hereditary deafness in molecular terms, focusing on isolated (i.e. nonsyndromic) hearing loss. The number of genes identified (36 to date) is growing rapidly. However, difficulties inherent in genetic linkage analysis, coupled with ...

Last Updated: 6 Apr 2004

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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

Natural History and Genetic Studies of Usher Syndrome
 

Status: Recruiting

Condition Summary: Retinitis Pigmentosa Syndromic; Congenital Deafness; Usher Syndrome; Retinitis Pigmentosa and Deafness; Progressive Hearing Loss; Retinitis Pigmentosa

 

Last Updated: 11 Nov 2014

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Clinical and Genetic Examination of Usher Syndrome Patients' Cohort in Europe
 

Status: Recruiting

Condition Summary: Usher Syndrome

 

Last Updated: 27 Sep 2013

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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: 11 Nov 2014

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