AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss

Ryan K Thorpe; W Daniel Walls; Rae Corrigan; Amanda Schaefer; Kai Wang; Patrick Huygen; Thomas L Casavant; Richard J H Smith

doi:10.1007/s00439-021-02424-7

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AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss

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AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss

Ryan K Thorpe, W Daniel Walls, Rae Corrigan, Amanda Schaefer, Kai Wang, Patrick Huygen, Thomas L Casavant and Richard J H Smith

Human genetics, Vol.141(3-4), pp.877-887

01/17/2022

DOI: 10.1007/s00439-021-02424-7

PMCID: PMC9092196

PMID: 35038006

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https://www.ncbi.nlm.nih.gov/pmc/articles/9092196View

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Abstract

Autosomal dominant non-syndromic hearing loss (ADNSHL) displays gene-specific progression of hearing loss, which is amenable to sequential audioprofiling. We sought to refine the natural history of ADNSHL by examining audiometric data in 5-year increments. 2175 audiograms were included from four genetic causes of ADNSHL-KCNQ4 (DFNA2), GSDME (DFNA5), WFS1 (DFNA6/14/38), and COCH (DFNA9). Annual threshold deterioration (ATD) was calculated for each gene: for the speech-frequency pure tone average, the ATD, respectively, was 0.72 dB/year, 0.94 dB/year, 0.53 dB/year, and 1.41 dB/year, with the largest drops occurring from ages 45-50 (0.89 dB/year; KCNQ4), 5-10 (1.42 dB/year; GSDME), 40-45 (0.83 dB/year; WFS1), and 50-55 (2.09 dB/year; COCH). 5-year interval analysis of audiograms reveals the gene specific natural history of KCNQ4, GSDME, WFS1 and COCH-related progressive hearing loss. Identifying ages at which hearing loss is most rapid informs clinical care and patient expectations. Natural history data are also essential to define outcomes of clinical trials that test novel therapies designed to correct or ameliorate these genetic forms of hearing loss.

Details

Title: Subtitle: AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss
Creators: Ryan K Thorpe - Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, Iowa, USA
W Daniel Walls - Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, Iowa, USA
Rae Corrigan - Roy J. Carver Department of Biomedical Engineering, University of Iowa, Iowa City, Iowa, USA
Amanda Schaefer - Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, Iowa, USA
Kai Wang - Department of Biostatistics, University of Iowa, Iowa City, Iowa, USA
Patrick Huygen - Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Thomas L Casavant - Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA
Richard J H Smith - Molecular Otolaryngology and Renal Research Laboratories and Iowa Institute of Human Genetics, Iowa City, Iowa, USA. Richard-smith@uiowa.edu
Resource Type: Journal article
Publication Details: Human genetics, Vol.141(3-4), pp.877-887
DOI: 10.1007/s00439-021-02424-7
PMID: 35038006
PMCID: PMC9092196
NLM abbreviation: Hum Genet
eISSN: 1432-1203
Grant note: DC002842 / NIDCD NIH HHS DC012049 / NIDCD NIH HHS DC017955 / NIDCD NIH HHS 5T32DC000040 / NIDCD NIH HHS
Language: English
Date published: 01/17/2022
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Electrical and Computer Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Biostatistics; Otolaryngology; Internal Medicine
Record Identifier: 9984210349202771

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