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Research Article
Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village.
  1. S Winata,
  2. I N Arhya,
  3. S Moeljopawiro,
  4. J T Hinnant,
  5. Y Liang,
  6. T B Friedman,
  7. J H Asher, Jr
  1. Department of Microscopic Anatomy, Faculty of Medicine, Udayana University, Denpasar, Bali, Indonesia.

    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.

    https://doi.org/10.1136/jmg.32.5.336

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