|
Title
|
|
|
|
Molecular diagnostics for hereditary hearing loss in children
|
|
|
Author
|
|
|
|
|
|
|
Abstract
|
|
|
|
| Introduction: Hearing loss (HL) is the most common birth defect in industrialized countries with far-reaching social, psychological and cognitive implications. It is an extremely heterogeneous disease, complicating molecular testing. The introduction of next-generation sequencing (NGS) has resulted in great progress in diagnostics allowing to study all known HL genes in a single assay. The diagnostic yield is currently still limited, but has the potential to increase substantially. Areas covered: In this review the utility of NGS and the problems for comprehensive molecular testing for HL are evaluated and discussed. Expert commentary: Different publications have proven the appropriateness of NGS for molecular testing of heterogeneous diseases such as HL. However, several problems still exist, such as pseudo-genic background of some genes and problematic copy number variant analysis on targeted NGS data. Another main challenge for the future will be the establishment of population specific mutation-spectra to achieve accurate personalized comprehensive molecular testing for HL. |
|
|
|
Language
|
|
|
|
English
|
|
|
Source (journal)
|
|
|
|
Expert review of molecular diagnostics
|
|
|
Publication
|
|
|
|
Oslo
:
Taylor & francis as
,
2017
|
|
|
ISSN
|
|
|
|
1473-7159
1744-8352
|
|
|
DOI
|
|
|
|
10.1080/14737159.2017.1340834
|
|
|
Volume/pages
|
|
|
|
17
:8
(2017)
, p. 751-760
|
|
|
ISI
|
|
|
|
000422747900003
|
|
|
Pubmed ID
|
|
|
|
28593790
|
|
|
Full text (Publisher's DOI)
|
|
|
|
|
|
|
Full text (publisher's version - intranet only)
|
|
|
|
|
|