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. 1995 May;32(5):336–343. doi: 10.1136/jmg.32.5.336

Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village.

S Winata 1, I N Arhya 1, S Moeljopawiro 1, J T Hinnant 1, Y Liang 1, T B Friedman 1, J H Asher Jr 1
PMCID: PMC1050426  PMID: 7616538

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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