Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.

ABSTRACT:

Background

Sensorineural hearing loss (SNHL) is the most common sensory impairment. Comprehensive next-generation sequencing (NGS) has become the standard for the etiological diagnosis of early-onset SNHL. However, accurate selection of target genomic regions (gene panel/exome/genome), analytical performance and variant interpretation remain relevant difficulties for its clinical implementation.

Methods

We developed a novel NGS panel with 199 genes associated with non-syndromic and/or syndromic SNHL. We evaluated the analytical sensitivity and specificity of the panel on 1624 known single nucleotide variants (SNVs) and indels on a mixture of genomic DNA from 10 previously characterized lymphoblastoid cell lines, and analyzed 50 Spanish patients with presumed hereditary SNHL

SUBMITTER: Cabanillas R 

PROVIDER: S-EPMC6038346 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature