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The Clinical Utility of Comprehensive Genetic Testing for Individuals with Congenital Sensorineural Hearing Loss

Strike, Brian J.
http://rave.ohiolink.edu/etdc/view?acc_num=ucin1212164935

Abstract Details

2008, MS, University of Cincinnati, Allied Health Sciences : Genetic Counseling.
Sensorineural hearing loss (SNHL) is an etiologically heterogeneous condition with numerous environmental causes and more than 120 identified causative genes. The purpose of this study is to assess the clinical utility of comprehensive genetic testing of seven genes known to cause autosomal recessive SNHL. A cohort of 37 children with non-DFNB1-related SNHL was enrolled. The seven genes in the study included: CDH23, MYO7A, OTOF, SLC26A4, GJB6, KCNQ1 and KCNE1. Dideoxy sequencing was performed to identify sequence variants. Integrative analysis of genetic epidemiology and bioinformatics assessed the putative pathogenicity of each sequence variant. A genetic cause of hearing loss was identified in 13.5% (5/37) of subjects. A plausible genetic cause of hearing loss was found in 10.8% (4/37) of subjects who were double heterozygotes. The results of this study indicate that comprehensive genetic testing can potentially identify a genetic etiology of SNHL in greater than 24% of the target population.
John Greinwald, MD (Committee Chair)
Jennifer Rushman, ScM (Committee Member)
Stephanie Ware, MD, PhD (Committee Member)
41 p.
Genetics
Sensorineural Hearing Loss; genetic testing

Recommended Citations

Citations

  • Strike, B. J. (2008). The Clinical Utility of Comprehensive Genetic Testing for Individuals with Congenital Sensorineural Hearing Loss [Master's thesis, University of Cincinnati]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1212164935

    APA Style (7th edition)

  • Strike, Brian. The Clinical Utility of Comprehensive Genetic Testing for Individuals with Congenital Sensorineural Hearing Loss. 2008. University of Cincinnati, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=ucin1212164935.

    MLA Style (8th edition)

  • Strike, Brian. "The Clinical Utility of Comprehensive Genetic Testing for Individuals with Congenital Sensorineural Hearing Loss." Master's thesis, University of Cincinnati, 2008. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1212164935

    Chicago Manual of Style (17th edition)

ucin1212164935
490
© 2008, all rights reserved.
This open access ETD is published by University of Cincinnati and OhioLINK.