Journal article
HOMER2, a Stereociliary Scaffolding Protein, Is Essential for Normal Hearing in Humans and Mice
Hela Azaiez, Amanda R Decker, Kevin T Booth, Allen C Simpson, A Eliot Shearer, Patrick LM Huygen, Fengxiao Bu, Michael S Hildebrand, Paul T Ranum, Seiji B Shibata, Ann Turner, Yuzhou Zhang, William J Kimberling, Robert A Cornell, Richard JH Smith
PLOS GENETICS | PUBLIC LIBRARY SCIENCE | Published : 2015
Abstract
Hereditary hearing loss is a clinically and genetically heterogeneous disorder. More than 80 genes have been implicated to date, and with the advent of targeted genomic enrichment and massively parallel sequencing (TGE+MPS) the rate of novel deafness-gene identification has accelerated. Here we report a family segregating post-lingual progressive autosomal dominant non-syndromic hearing loss (ADNSHL). After first excluding plausible variants in known deafness-causing genes using TGE+MPS, we completed whole exome sequencing in three hearing-impaired family members. Only a single variant, p.Arg185Pro in HOMER2, segregated with the hearing-loss phenotype in the extended family. This amino acid ..
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Awarded by National Institute of Deafness and Other Communication Disorders
Awarded by National Science Foundation
Awarded by National Institute of Arthritis and Musculoskeletal and Skin Diseases
Awarded by National Institute of Dental Craniofacial Research
Awarded by NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES
Awarded by NATIONAL INSTITUTE OF DENTAL & CRANIOFACIAL RESEARCH
Awarded by NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES
Awarded by NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS
Funding Acknowledgements
This work was supported in part by grants from the National Institute of Deafness and Other Communication Disorders(http://www.nidcd.nih.gov): RO1s DC003544 and DC012049 to RJHS, and by grants from the National Science Foundation (http://www.nsf.gov/): IOS- 114722, from the National Institute of Arthritis and Musculoskeletal and Skin Diseases(http://www.niams.nih.gov/): R01/AR062547 and from the National Institute of Dental Craniofacial Research (http://www.nidcr.nih.gov/): R01/DE021071 to RAC. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.