Navigating genetic diagnostics in patients with hearing loss

Christina M Sloan-Heggen; Richard J H Smith

doi:10.1097/MOP.0000000000000410

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Journal article

Navigating genetic diagnostics in patients with hearing loss

Christina M Sloan-Heggen and Richard J H Smith

Current opinion in pediatrics, Vol.28(6), pp.705-712

12/2016

DOI: 10.1097/MOP.0000000000000410

PMCID: PMC5241053

PMID: 27552069

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Abstract

In the age of targeted genomic enrichment and massively parallel sequencing, there is no more efficient genetic testing method for the diagnosis of hereditary hearing loss. More clinical tests are on the market, which can make choosing good tests difficult. More and larger comprehensive genetic studies in patients with hearing loss have been published recently. They remind us of the importance of looking for both single nucleotide variation and copy number variation in all genes implicated in nonsyndromic hearing loss. They also inform us of how a patient's history and phenotype provide essential information in the interpretation of genetic data. Choosing the most comprehensive genetic test improves the chances of a genetic diagnosis and thereby impacts clinical care.

Hearing Loss - genetics

Hearing Loss - diagnosis

Humans

High-Throughput Nucleotide Sequencing

Polymorphism, Single Nucleotide

Genetic Markers

Genetic Testing - methods

DNA Copy Number Variations

Details

Title: Subtitle: Navigating genetic diagnostics in patients with hearing loss
Creators: Christina M Sloan-Heggen - aMolecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa bDepartment of Molecular Physiology and Biophysics, University of Iowa Carver College of Medicine cInterdepartmental PhD Program in Genetics, University of Iowa, Iowa City, Iowa, USA
Richard J H Smith
Resource Type: Journal article
Publication Details: Current opinion in pediatrics, Vol.28(6), pp.705-712
DOI: 10.1097/MOP.0000000000000410
PMID: 27552069
PMCID: PMC5241053
NLM abbreviation: Curr Opin Pediatr
ISSN: 1040-8703
eISSN: 1531-698X
Publisher: United States
Grant note: R01 DC003544 / NIDCD NIH HHS R01 DC012049 / NIDCD NIH HHS R01 DC002842 / NIDCD NIH HHS T32 GM007337 / NIGMS NIH HHS R01 DC005218 / NIDCD NIH HHS
Language: English
Date published: 12/2016
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
Record Identifier: 9984007293602771

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