Genotype phenotype correlations for hearing impairment: approaches to management

There is no fulltext present in this item.

Title:	Genotype phenotype correlations for hearing impairment: approaches to management
Author(s):	Hoefsloot, L.H. ; Feenstra, I. ; Kunst, H.P.M. ; Kremer, H.
Publication year:	2014
Source:	Clinical Genetics, vol. 85, iss. 6, (2014), pp. 514-523
ISSN:	0009-9163
DOI:	https://doi.org/10.1111/cge.12339
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : https://hdl.handle.net/2066/138106
Display more details
Subject:	Radboudumc 12: Sensory disorders RIHS: Radboud Institute for Health Sciences Radboudumc 12: Sensory disorders RIMLS: Radboud Institute for Molecular Life Sciences
Organization:	Human Genetics Otorhinolaryngology
Journal title:	Clinical Genetics
Volume:	vol. 85
Issue:	iss. 6
Page start:	p. 514
Page end:	p. 523
Abstract:	Hearing impairment is an extremely heterogeneous disorder, with both environmental as well as genetic causes. This review describes the known genes involved in non-syndromic hearing impairment and their genotype-phenotype correlations where possible. Furthermore, some of the more frequent syndromic forms of hearing impairment are described, in particular where they overlap with the non-syndromic forms. Given the heterogeneity of the disorder, together with the indistinguishable phenotypes for many of the genes, it is suggested that testing for mutations is performed using massive parallel sequencing techniques, either by a large targeted set of genes or by an exome wide analysis.