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

J Med Genet. 1995 May;32(5):336-43. doi: 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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Chromosome Mapping
  • Chromosomes, Human, Pair 17
  • DNA / analysis
  • DNA Probes
  • Deafness / congenital*
  • Deafness / epidemiology
  • Deafness / genetics*
  • Female
  • Gene Frequency
  • Genes, Recessive
  • Genetic Linkage / genetics
  • Humans
  • Incidence
  • Indonesia / epidemiology
  • Male
  • Pedigree
  • Phenotype
  • Repetitive Sequences, Nucleic Acid / genetics

Substances

  • DNA Probes
  • DNA