ArticleGenetics in medicine : official journal of the American College of Medical Genetics2008
Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- Cataloging Existing Hearing Loss Cohort Data to Guide the Development of Precision Medicine for Sensorineural Hearing Loss: A Systematic Review of Hearing Repositories.The journal of international advanced otology · 2023Pooled it
- Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review.Biomedicines · 2023Review
- The Pathological Mechanisms of Hearing Loss Caused byBiomedicines · 2022Review
- AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss.Human genetics · 2022Article
- Cell death-inducing cytotoxicity in truncated KCNQ4 variants associated with DFNA2 hearing loss.Disease models & mechanisms · 2021Article
- miR-153/KCNQ4 axis contributes to noise-induced hearing loss in a mouse model.The journal of physiological sciences : JPS · 2021Article
- A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations.Human genetics · 2020Article
- Computational analysis based on audioprofiles: A new possibility for patient stratification in office-based otology.Audiology research · 2019Article
- Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss.Scientific reports · 2018Article
- A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2.BMC medical genetics · 2017Article
- Article
- Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL.European journal of human genetics : EJHG · 2013Article
- Impaired surface expression and conductance of the KCNQ4 channel lead to sensorineural hearing loss.Journal of cellular and molecular medicine · 2013Article
- AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening.Human mutation · 2013Article
- Article
- Distinct roles of molecular chaperones HSP90α and HSP90β in the biogenesis of KCNQ4 channels.PloS one · 2013Article
- Using the phenome and genome to improve genetic diagnosis for deafness.Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery · 2012Article
- Genetics of hearing loss: focus on DFNA2.The application of clinical genetics · 2012Article
- Relative time course of degeneration of different cochlear structures in the CD/1 mouse model of accelerated aging.Journal of the Association for Research in Otolaryngology : JARO · 2011Article
- DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.Human mutation · 2011Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 3 countries.
Funding
Abstract
purposeGene identification in small families segregating autosomal dominant sensorineural hearing loss presents a significant challenge. To address this challenge, we have developed a machine learning-based software tool, AudioGene v2.0, to prioritize candidate genes for mutation screening based on audioprofiling.
methodsWe analyzed audiometric data from a cohort of American families with high-frequency autosomal dominant sensorineural hearing loss. Those families predicted to have a DFNA2 audioprofile by AudioGene v2.0 were screened for mutations in the KCNQ4 gene.
resultsTwo novel missense mutations and a stop mutation were detected in three American families predicted to have DFNA2-related deafness for a positive predictive value of 6.3%. The false negative rate was 0%. The missense mutations were located in the channel pore region and the stop mutation was in transmembrane domain S5. The latter is the first DFNA2-causing stop mutation reported in KCNQ4.
conclusionsOur data suggest that the N-terminal end of the P-loop is crucial in maintaining the integrity of the KCNQ4 channel pore and AudioGene audioprofile analysis can effectively prioritize genes for mutation screening in small families segregating high-frequency autosomal dominant sensorineural hearing loss. AudioGene software will be made freely available to clinicians and researchers once it has been fully validated.
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