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Genetic causes of hearing loss

Article Abstract:

As of April, 2000, 15 genes have been linked to hearing loss. Thirteen are genes in the cell nucleus and two are genes in mitochondrial DNA. The genes code various proteins involved in hearing, including ion channels, proteins that form the structure of the cochlea, proteins that stimulate gene transcription, and proteins called connexins, which form channels in cell membranes. Hearing loss can also be caused by environmental factors such as fetal infection, chronic exposure to loud sounds and some drugs. About 10% of people 65 years old or older have some form of hearing loss.

Author: Willems, Patrick J.
Publisher: Massachusetts Medical Society
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 2000

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A new era in the genetics of deafness

Article Abstract:

A 1998 study found that a mutation in the gene for a protein called connexin 26 may be involved in some types of hereditary deafness. This protein assists in transporting molecules between cells. It occurs in many parts of the body, including the inner ear. Mutations in the connexin 26 gene, which is called GJB2, may account for half of all cases of childhood deafness. One of these mutations, called 30delG, may occur in 1 out of 30 people, making it one of the most common disease-causing mutations.

Author: Steel, Karen P.
Publisher: Massachusetts Medical Society
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 1998
Health aspects, Editorial, Gene mutations, Gene mutation

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Newborn hearing screening - A silent revolution

Article Abstract:

The prelingual hearing loss, which is either present at birth or begins before the age of five years, when language has normally been acquired, is explored. The most common genetic and environmental causes of congenital deafness can be established shortly after birth. Infants at risk for the most common genetic, environmental and preventable causes of late-onset prelingual hearing loss could be identified by conducting molecular tests on all infants for just four important causes of hearing loss.

Author: Morton, Cynthia C., Nance, Walter E.
Publisher: Massachusetts Medical Society
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 2006
United Kingdom, Diagnosis, Medical examination, Environmental aspects, Infants (Newborn), Newborn infants

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Subjects list: Genetic aspects, Hearing loss, Deafness
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