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Ashkenazi Disorders: Non-Syndromic Hearing Loss

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Ashkenazi Disorders: Mendelian

Nonsyndromic Hearing Loss and Deafness, DFNB1
(Connexin 26)

Connexin 26 is a non-progressive mild-to-profound sensorineural hearing impairment. There are no other medical findings associated with these mutations.

Disease frequency: 1 in 1,700 in Ashkenazi Jews, 1 in 7,000 for general population
Carrier frequency: 1 in 20 to 1 in 25 in Ashkenazi Jews, 1 in 35 in US Caucasian population.
Diagnosis: DNA analysis detects >95% of deafness-causing mutations.
Inheritance: Autosomal Recessive
Carrier testing: Available through DNA mutation testing.
Prenatal diagnosis: Available by DNA testing for couples with a previously affected child or to couples found to be at risk by carrier testing.

Technical Information on Nonsyndromic Hearing Loss and Deafness

Additional Information:
American Speech-Language Hearing Associates
http://www.asha.org/hearing/disorders/causes.cfm

American Speech-Language-Hearing Association
10801 Rockville Pike
Rockville, MD 20852
Toll-free, voice or TTY: 800-638-8255
Available 8:30 a.m.-5:00 p.m. ET
email: actioncenter@asha.org

The Connexin-deafness homepage
The Deafness Research Group
http://www.crg.es/deafness/

Back to Ashkenazi Disorders

This page last updated on January 10, 2003.

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the Michael Reese Health Trust

© 2003 Chicago Center for Jewish Genetic Disorders

Jewish Federation of Metropolitan ChicagoChildren's Memorial Hospital