@article{Keats01011999,
author = {Keats, Bronya J. B. and Berlin, Charles I.}, 
title = {Genomics and Hearing Impairment},
volume = {9}, 
number = {1}, 
pages = {7-16}, 
year = {1999}, 
doi = {10.1101/gr.9.1.7}, 
abstract ={Hearing impairment is clinically and genetically heterogeneous. There are >400 disorders in which hearing impairment is a characteristic of the syndrome, and family studies demonstrate that there are at least 30 autosomal loci for nonsyndromic hearing impairment. The genes that have been identified encode diaphanous (HDIA1), α-tectorin (TECTA), the transcription factorPOU4F3, connexin 26 (GJB2), and two unconventional myosins (MYO7A and MYO15), and four novel proteins (PDS,COCH, DFNA5, DFNB9). The same clinical phenotype in hearing-impaired individuals, even those within the same family, can result from mutations in different genes. Conversely, mutations in the same gene can result in a variety of clinical phenotypes with different modes of inheritance. For example, mutations in the gene encoding MYO7A cause Usher syndrome type IB, autosomal-recessive nonsyndromic hearing impairment (DFNB2), and autosomal-dominant nonsyndromic hearing impairment (DFNA11). Additionally, the mouse ortholog of theMYO7A gene is the shaker-1 gene. Mouse models such asshaker-1 have facilitated the identification of genes that cause hearing impairment in humans. The availability of high-resolution maps of the human and mouse genomes and new technologies for gene identification are advancing molecular understanding of hearing impairment and the complex mechanisms of the auditory system.}, 
URL = {http://genome.cshlp.org/content/9/1/7.abstract}, 
eprint = {http://genome.cshlp.org/content/9/1/7.full.pdf+html}, 
journal = {Genome Research} 
}