Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village.
Open Access
- 1 May 1995
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 32 (5) , 336-343
- https://doi.org/10.1136/jmg.32.5.336
Abstract
Bengkala is an Indonesian village located on the north shore of Bali that has existed for over 700 years. Currently, 2.2% of the 2185 people in this village have profound congenital deafness. In response to the high incidence of deafness, the people of Bengkala have developed a village specific sign language which is used by many of the hearing and deaf people. Deafness in Bengkala is congenital, sensorineural, non-syndromal, and caused by a fully penetrant autosomal recessive mutation at the DFNB3 locus. The frequency of the DFNB3 mutation is estimated to be 9.4% among hearing people who have a 17.2% chance of being heterozygous for DFNB3.Keywords
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