Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

ABSTRACT:

Purpose

Hearing loss (HL) is the most common sensory disorder in children. Prompt molecular diagnosis may guide screening and management, especially in syndromic cases when HL is the single presenting feature. Exome sequencing (ES) is an appealing diagnostic tool for HL as the genetic causes are highly heterogeneous.

Methods

ES was performed on a prospective cohort of 43 probands with HL. Sequence data were analyzed for primary and secondary findings. Capture and coverage analysis was performed for genes and variants associated with HL.

Results

The diagnostic rate using ES was 37.2%, compared with 15.8% for the clinical HL panel. Secondary findings were discovered in three patients. For 247 genes associated with HL, 94.7% of the exons were targeted for capture and 81.

SUBMITTER: Sheppard S 

PROVIDER: S-EPMC6295269 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature