Whole exome sequencing identifies recessive gene as cause of deafness

Sequencing the whole exome (the protein-coding part of the gene) enabled researchers led by those at Baylor College of Medicine to identify a recessive gene mutation associated with deafness. In a report in the American Journal of Human Genetics, the international consortium of researchers described how whole exome sequencing of three hearing-impaired individuals from three unrelated Pakistani families identified two separate missense mutations in a gene known as KARS, which codes for a protein called lysl-tRNA synthetase, and how they ascertained that these particular gene changes could be damaging. The research was funded in part by NHGRI.
Source: NHGRI-Related News - Category: Genetics & Stem Cells Source Type: news