Non-syndromic Autosomal Recessive Deafness in Pakistani Population: Epidemiology and Genetics.

The article discusses a study that investigated the genetics and epidemiology of autosomal recessive non-syndromic deafness in Pakistani population. A number of genes causing pre-lingual, severe to profound or profound hearing impairment were identified in a consanguineous family. Thirty-five autosomal recessive non-syndromic deafness loci have been discovered in the population. The important role played by the identification and functional analysis of deafness loci/genes in the understanding of the auditory processes is highlighted.