Exome sequencing: Defining hereditary deafness
Wednesday, September 14, 2011 - 15:00
in Biology & Nature
Precise diagnosis of disease and developmental syndromes often depends on understanding the genetics underlying them. Most cases of early onset hearing loss are genetic in origin but there are many different forms. Heretofore, it has been difficult to identify the gene responsible for the hearing loss of each affected child, because the critical mutations differ among countries and populations. New research published in BioMed Central's open access journal Genome Biology has identified six critical mutations in Israeli Jewish and Palestinian Arab families. Mutations in one gene, TMC1, was found in 38% of children with genetic hearing loss in the Moroccan Jewish population.
