title: Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village.
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.
authors.affiliation: Department of Microscopic Anatomy, Faculty of Medicine, Udayana University, Denpasar, Bali, Indonesia.
authors.forename: S
authors.initials: S
authors.lastname: Winata
authors.forename: I N
authors.initials: IN
authors.lastname: Arhya
authors.forename: S
authors.initials: S
authors.lastname: Moeljopawiro
authors.forename: J T
authors.initials: JT
authors.lastname: Hinnant
authors.forename: Y
authors.initials: Y
authors.lastname: Liang
authors.forename: T B
authors.initials: TB
authors.lastname: Friedman
authors.forename: J H
authors.initials: JH
authors.lastname: Asher
mesh_terms: D000483:Alleles; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D004247:DNA / Q000032:analysis; D015342:DNA Probes; D003638:Deafness / Q000151:congenital* / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005808:Genes, Recessive; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D015994:Incidence; D007214:Indonesia / Q000453:epidemiology; D008297:Male; D010375:Pedigree; D010641:Phenotype; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics
chemical_list: D015342:DNA Probes; D004247:DNA