SLC12A2: a new gene associated with autosomal dominant Non-Syndromic hearing loss in humans
Autor: | Giorgia Girotto, Daniele Dell'Orco, Anna Morgan, Umberto Ambrosetti, Giulia Pelliccione |
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Přispěvatelé: | Morgan, A., Pelliccione, G., Ambrosetti, U., Dell'Orco, D., Girotto, G. |
Rok vydání: | 2020 |
Předmět: | |
Zdroj: | Hearing, Balance and Communication. 18:149-151 |
ISSN: | 2169-5725 2169-5717 |
Popis: | Non-Syndromic Hereditary Hearing Loss (NSHHL) is the most common congenital sensorineural disorder with a reported frequency of 1/500 live births. It is char- acterised by a high genetic heterogeneity (approx. 115 genes and 170 loci so far identified) and current genetic tests fail to provide a diagnosis for a majority of cases, suggesting that many novel HL genes and muta- tions need to be identified [1]. In this light, the large genetic heterogeneity of the disease can be overcome using innovative technologies such as next generation sequencing techniques including Whole Exome Sequencing (WES). |
Databáze: | OpenAIRE |
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