Article
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.
Human mutation - 1 Aug 2016
Sommen Manou, Schrauwen Isabelle, Vandeweyer Geert, Boeckx Nele, Corneveaux Jason J, van den Ende Jenneke, Boudewyns An, De Leenheer Els, Janssens Sandra, Claes Kathleen, Verstreken Margriet, Strenzke Nicola, Predöhl Friederike, Wuyts Wim, Mortier Geert, Bitner-Glindzicz Maria, Moser Tobias, Coucke Paul, Huentelman Matthew J, Van Camp Guy
Abstract excerpt
Although there are nearly 100 different causative genes identified for nonsyndromic hearing loss (NSHL), Sanger sequencing-based DNA diagnostics usually only analyses three, namely, GJB2, SLC26A4, and OTOF. As this is seen as inadequate, there is a need for high-throughput diagnostic methods to detect disease-causing variations, including single-nucleotide variations (SNVs), insertions/deletions (Indels), and...
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