Journal article

Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus

Michael S Hildebrand, Dylan Tack, Sarah J McMordie, Adam DeLuca, In Ae Hur, Carla Nishimura, Patrick Huygen, Thomas L Casavant, Richard JH Smith

Genetics in medicine : official journal of the American College of Medical Genetics | SPRINGERNATURE | Published : 2008

Abstract

PURPOSE: Gene 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. METHODS: We 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. RESULTS: Two novel missense mutations and a stop mutation were detected in three American families predicted to have DFNA2-..

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University of Melbourne Researchers

Grants

Awarded by NIH-NIDCD


Awarded by NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS


Funding Acknowledgements

R.J.H. Smith is the Sterba Hearing Research Professor, University of Iowa College of Medicine, who supported the project with an NIH-NIDCD grant (RO1 DC03544) for autosomal dominant nonsyndromic hearing loss.