New genes for human deafness found in Israeli families

September 23, 2020

Until now, seven genes were known to be involved in hearing loss in Israel's Jewish population. A new study led by Zippora Brownstein, PhD, and Prof. Karen Avraham from the Sackler Faculty of Medicine at Tel Aviv University has found that 32 genes are responsible for inherited hearing loss in Israeli Jewish families. The researchers also identified a mutation in a gene not previously recognized to cause hearing loss in humans. The research has immediate implications for genetic counseling for families with hearing loss and for care of children with hearing loss.

Researchers from multiple Israeli universities and hospitals, and the University of Washington in Seattle, the U.S. National Institutes of Health (NIH), Bethlehem University, the University of Iceland, and the University of Maryland contributed to the study. The study was published on July 20, 2020, in the journal Clinical Genetics.

More than 150 genes are known to be involved in hearing loss. Genetic diagnoses for inherited hearing loss have previously been difficult because any one of these different genes, and any of many mutations in each gene, could be the cause. Until now, mutations in only seven of the 150 genes had been detected among persons with hearing loss in the Jewish population of Israel. In the current study, which included 88 Israeli families with hearing loss, the researchers identified mutations in 25 additional genes.

Although 24 of the 25 genes are known to cause hearing loss in families worldwide, most of the specific mutations in Israeli Jewish families are newly observed and thus far known only the Jewish community. The 25th gene, called ATOH1, was found for the first time to cause hearing loss in humans.

"We know that ATOH1 has an important role in the ear," explains Prof. Avraham. "Without it, hair cells of the inner ear -- the cells responsible for our hearing -- cannot develop properly. Until now, a mutation in this gene was identified only in mice, and the mice had a hearing loss. We found a similar mutation in relatives with hearing loss in a large family in Israel, the first people in the world known to have a mutation in this gene. I believe we will find more families, both in Israel and abroad, with mutations in this gene that cause hearing loss. With this information, new treatment possibilities, including gene therapy, for people with hearing loss will be developed.

"We surveyed Jewish families throughout Israel with all types of hearing loss: from congenital to older age at onset, and from moderate to profound," Prof. Avraham adds. "Our survey exploited advanced gene sequencing technology, including a custom gene panel that we created called HEar-Seq. This custom gene panel allowed us to simultaneously sequence all 150 genes known to be involved in hearing loss, and many 'candidate genes' as well. HEar-Seq revealed the distribution of genes and their mutations responsible for hearing loss in all the Jewish communities that make up modern Israel. It led us to ATOH1.

"Our discoveries have immediate implications for genetic counseling, which can enable families to prevent additional cases of hearing loss through pre-gestational genetic diagnosis and in-vitro fertilization. Also, for many families, treatment and rehabilitation for hearing loss can be tailored to the family's specific mutation. The findings of this study allow doctors and audiologists in Israel to provide personally tailored treatment to patients with inherited hearing loss."
-end-
The study was funded by the National Institute of Deafness and Communication Disorders of the U.S. National Institutes of Health, the Israel Precision Medicine Program of the Israel Science Foundation, the Ernest and Bonnie Beutler Research Program of Excellence in Genomic Medicine, the Hedrich Charitable Trust, and travel grants from the University of Washington Virginia Bloedel Hearing Research Institute.

American Friends of Tel Aviv University

Related Hearing Loss Articles from Brightsurf:

Proof-of-concept for a new ultra-low-cost hearing aid for age-related hearing loss
A new ultra-affordable and accessible hearing aid made from open-source electronics could soon be available worldwide, according to a study published September 23, 2020 in the open-access journal PLOS ONE by Soham Sinha from the Georgia Institute of Technology, Georgia, US, and colleagues.

Ultra-low-cost hearing aid could address age-related hearing loss worldwide
Using a device that could be built with a dollar's worth of open-source parts and a 3D-printed case, researchers want to help the hundreds of millions of older people worldwide who can't afford existing hearing aids to address their age-related hearing loss.

Understanding the link between hearing loss and dementia
Scientists have developed a new theory as to how hearing loss may cause dementia and believe that tackling this sensory impairment early may help to prevent the disease.

Study uncovers hair cell loss as underlying cause of age-related hearing loss
In a study of human ear tissues, scientists have demonstrated that age-related hearing loss is mainly caused by damage to hair cells.

Hair cell loss causes age-related hearing loss
Age-related hearing loss has more to do with the death of hair cells than the cellular battery powering them wearing out, according to new research in JNeurosci.

How hearing loss in old age affects the brain
If your hearing deteriorates in old age, the risk of dementia and cognitive decline increases.

Examining associations between hearing loss, balance
About 3,800 adults 40 and older in South Korea participating in a national health survey were included in this analysis that examined associations between hearing loss and a test of their ability to retain balance.

Veterinarians: Dogs, too, can experience hearing loss
Just like humans, dogs are sometimes born with impaired hearing or experience hearing loss as a result of disease, inflammation, aging or exposure to noise.

Victorian child hearing-loss databank to go global
A unique databank that profiles children with hearing loss will help researchers globally understand why some children adapt and thrive, while others struggle.

Hearing loss, dementia risk in population of Taiwan
A population-based study using data from the National Health Insurance Research Database of Taiwan suggests hearing loss is associated with risk of dementia.

Read More: Hearing Loss News and Hearing Loss Current Events
Brightsurf.com is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to Amazon.com.