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Ann. N.Y. Acad. Sci. ISSN 0077-8923 ANNALS OF THE NEW YORK ACADEMY OF SCIENCES
 

Summary: Ann. N.Y. Acad. Sci. ISSN 0077-8923
ANNALS OF THE NEW YORK ACADEMY OF SCIENCES
Issue: The Year in Human and Medical Genetics
Hearing loss: a common disorder caused by many
rare alleles
Dorith Raviv, Amiel A. Dror, and Karen B. Avraham
Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
Address for correspondence: Karen B. Avraham, Department of Human Molecular Genetics & Biochemistry, Sackler School of
Medicine, Tel Aviv University, Tel Aviv 69978, Israel. karena@post.tau.ac.il
Perception of sound is a fundamental role of the auditory system. Traveling with the force of their mechanical energy,
sound waves are captured by the ear and activate the sensory pathway of this complex organ. The hair cells, specialized
sensory cells within the inner ear, transmit the mechanical energy into electrical nerve stimuli that reach the brain.
A large number of proteins are responsible for the overarching tasks required to maintain the complex mechanism
of sound sensation. Many hearing disorders are due to single gene defects inherited in a Mendelian fashion, thus
enabling clinical diagnostics. However, at the same time, hearing impairment is genetically heterogeneous, with both
common and rare forms occurring due to mutations in over 100 genes. The crosstalk between human and mouse
genetics has enabled comprehensive studies on gene identification and protein function, taking advantage of the
tools animal models have to offer. The aim of the following review is to provide background and examples of human
deafness genes and the discovery of their function in the auditory system.
Keywords: deafness; Usher syndrome; myosin VIIA; cadherin 23; stereocilin; microRNA-96

  

Source: Avraham, Karen - Department of Human Genetics and Molecular Medicine, Tel Aviv University

 

Collections: Biology and Medicine