Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.
Rubén CabanillasMarta DiñeiroGuadalupe A CifuentesDavid CastilloPatricia C PrunedaRebeca ÁlvarezNoelia Sánchez-DuránRaquel CapínAna PlasenciaMónica Viejo-DíazNoelia García-GonzálezInés HernandoJosé L LlorenteAlfredo Repáraz-AndradeCristina Torreira-BanzasJordi RosellNancy GoveaJusto Ramón Gómez-MartínezFaustino Núñez-BatallaJosé A GarroteÁngel Mazón-GutiérrezMaría CostalesMaría Isidoro-GarcíaBelén García-BerrocalGonzalo R OrdóñezJuan CadiñanosPublished in: BMC medical genomics (2018)
In the era of precision medicine, obtaining an etiologic diagnosis of SNHL is imperative. Here, we contribute to show that, with the right methodology, NGS can be transferred to the clinical practice, boosting the yield of SNHL genetic diagnosis to 50-60% (including GJB2/GJB6 alterations), improving diagnostic/prognostic accuracy, refining genetic and reproductive counseling and revealing clinically relevant undiagnosed syndromes.