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/
Supported by a grant from
the Michael Reese Health Trust
© 2003 Chicago Center for Jewish Genetic Disorders
