2025 Early Hearing Detection & Intervention Conference
March 9-11, 2025 • Pittsburgh, PA
DAVID L. LAWRENCE CONVENTION CENTER
| Hearing and Connexin-26: A Review and Case-Study
Hearing and Connexin-26: A Review and Case-Study
Connexin-26 gene mutations have been identified as a leading cause of hereditary congenital hearing loss. Connexin-26, also known as gap junction beta-2 (GJB2), is a protein found in the inner ear responsible for forming gap junctions. These gap junctions facilitate the transportation of potassium ions and certain small molecules that assist in maintaining endocochlear potentials within a normal hearing individual. In the United States, one of the most common of the more than 90 different connexin-26 related genetic mutations is the 35delG mutation. This mutation leads to the absence of connexin-26 formation in the inner ear and usually presents phenotypically as a severe to profound bilateral hearing loss. Most hearing losses are stable over time, however recent data illustrates that progression also occurs. This study aims to review known literature on connexin-26 to better understand hearing loss progression and analyze a case-study of a 35delG connexin-26 mutation hearing loss progression over 20+ years. We anticipate that this information will be helpful as a future guide for hearing healthcare professionals to further understand connexin-26 hearing loss, more specifically the 35delG mutation, so that they may properly counsel patients and families.
- Participant will be able to identify the normal function of connexin-26 as a gap junction protein.
- Participant will be able to describe the physiological effects of connexin-26 35delG mutation.
- Participant will be able to discuss hearing loss progression patterns in individuals with connexin-26 35delG mutations.
Presentation:
3545975_18247TyHuck.pdf
Handouts:
Handout is not Available
Transcripts:
CART transcripts are NOT YET available, but will be posted shortly after the conference
Presenters/Authors
Ty Huck
(Primary Presenter), Idaho State University Audiology, tyhuck@isu.edu;
Ty Huck is a current 2nd year AuD student at Idaho State University. He graduated with summa cum laude honors from Idaho State University with a Bachelor of Science in Communication Sciences and Disorders (CSD): Pre-Audiology and an Associate of Science in Health Science. Ty also graduated from Arapahoe Community College with an Associate of Science in General Science. Ty is currently serving as the president of the Idaho State University SAA chapter and as the National SAA ambassador of Idaho. His passion for audiology is deeply rooted in his personal experience with severe to profound hearing loss. Having faced many challenges and the stigma associated with it, he is committed to using his experiences to raise awareness and provide support for others who live with hearing loss. Ty enjoys many aspects of audiology and aspires to become a catalyst for improving accessibility for those with hearing loss.
ASHA DISCLOSURE:
Financial -
• Receives Salary for Employment from Idaho State University.
Nonfinancial -
• Has a Professional
(National SAA State Ambassador)
relationship for Other volunteer activities.
AAA DISCLOSURE:
Financial -
Financial relationship with Idaho State University, Student Academy of Audiology (SAA).
Nature: Idaho State University employee, National SAA member and National SAA state ambassador (Idaho).
Nonfinancial -
No relevant nonfinancial relationship exists.
Curtis Billings
(Co-Author), Idaho State University, curtisbillings@isu.edu;
Associate Professor in the Department of Communication Sciences and Disorders at Idaho State University.
ASHA DISCLOSURE:
Financial -
Nonfinancial -
AAA DISCLOSURE:
Financial -
Nonfinancial -
Gabriel Bargen
(Co-Presenter), Idaho State University, barggabr@isu.edu;
Gabriel Anne Bargen, Ph.D., is the Interim Dean, College of Health, and Executive Director for the Idaho State University Health Science Center and an Associate Professor of Audiology in the Department of Communication Sciences and Disorders. Her clinical and research training includes master's degrees in both speech-language pathology and audiology and a PhD in Audiology from the University of Kansas. She has taught several graduate courses including pediatric audiology and advance aural rehabilitation. Professional interests include pediatric audiology specifically diagnostic hearing assessment and treatment and assessing risks associated with hearing dysfunction in infants. Dr. Bargen’s current research focuses on evaluating risk indicators for delayed-onset hearing loss and finding ways to make resources accessible to all children who are hard of hearing or deaf in Idaho by connecting community entities across the state. Dr. Bargen is on the Idaho Sound Beginnings (EHDI) Advisory Board, she serves on ASHA's Committee of Ambassadors as Idaho's audiology representative, and is on the American Journal of Audiology Editorial Review Board and the SIG 9 Editorial Review Board.
ASHA DISCLOSURE:
Financial -
• Receives Salary,Grants for Employment,Membership on advisory committee or review panels from Idaho State University.
Nonfinancial -
• Has a Professional
(advisory board)
relationship for Board membership.
AAA DISCLOSURE:
Financial -
Financial relationship with Idaho State University.
Nature: grant funding for research
salary from Idaho State University
board member on Idaho Sound Beginnings Advisory Board.
Nonfinancial -
No relevant nonfinancial relationship exists.