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).
SLC12A2: a new gene associated with autosomal dominant Non-Syndromic hearing loss in humans / Morgan, A., Pelliccione, G., Ambrosetti, U., Dell'Orco, D., Girotto, G.. - In: HEARING, BALANCE AND COMMUNICATION. - ISSN 2169-5717. - 18:2(2020), pp. 149-151. [10.1080/21695717.2020.1726670]
SLC12A2: a new gene associated with autosomal dominant Non-Syndromic hearing loss in humans
Morgan A.
;Girotto G.
2020-01-01
Abstract
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).| File | Dimensione | Formato | |
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