Title:
Genetic diagnostics of early childhood hearing loss: better testing with Next- Generation DNA Sequencing
Authors:
M. Sommen and G. Van Camp
Institutions:
University of Antwerp, Department of Medical Genetics, Antwerp, Belgium
Keywords:
Congenital hearing loss; deafness; genetics and diagnostics
Pages:
51 - 56
Abstract:
Genetic diagnostics of early childhood hearing loss: better testing with Next-Generation DNA Sequencing. Hearing loss is the most common sensory disorder in children, with an incidence of 1 in 500 newborns. Most cases are caused by mutations in a single gene. However, DNA diagnostics for hearing loss are challenging, since it is an extremely heterogeneous­trait.­Although­more­than­47­causative­genes­have­been­identified­for­the­nonsyndromic­forms­of­hearing­ loss­alone,­diagnostic­application­of­the­scientific­progress­has­lagged­behind.­The­reason­for­this­is­the­cost:­screening­ all the known causative genes for hearing loss in one patient with the current golden standard for DNA diagnostics, Sanger sequencing, would be extremely expensive. Consequently, current routine DNA diagnostic testing for hearing loss­is­restricted­to­one­or­two­of­the­most­common­causative­genes,­and­the­responsible­gene­is­identified­in­only­10-20%­ of cases. Several recent reports have shown that next-generati on DNA sequencing techniques have the potential to provide­a­novel­testing­platform­that­could­test­all­known­genes­in­a­sensitive,­specific­and­cost-efficient­manner.­It­is­ to be expected that these new tests will greatly improve DNA diagnostics in the coming years.
Issue:
Suppl. 21, 2013


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Genetic diagnostics of early childhood hearing loss: better testing with Next- Generation DNA Sequencing