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

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

The Connexin-deafness homepage
The Deafness Research Group